PiSITE

PDB ID	3B8E	CHAIN	A
Protein name	Sodium/potassium-transporting ATPase subunit alpha-1
Uniprot Accession	P05024
The number of similar proteins	27
The number of binding states	6
The number of binding partners	5

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding state	Binding partners
	3B8E (CHAIN: A)
1	P05027
2	P05027
3	Q58K79 P05027
4	P05027 Q58K79
5	P05024 Q58K79 P05027
6	P05024 Q58K79 P05027 P05027

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Molecule viewer

Only interaction residues

#binding
partners

	3
	2
	1
	0

Sequence information

AKKERDMDEL

KKEVSMDDHK

LSLDELHRKY

GTDLSRGLTP

ARAAEILARD

GPNALTPPPT

TPEWVKFCRQ

LFGGFSMLLW

IGAILCFLAY

GIQAATEEEP

100

101

QNDNLYLGVV

LSAVVIITGC

FSYYQEAKSS

KIMESFKNMV

PQQALVIRNG

150

151

EKMSINAEEV

VVGDLVEVKG

GDRIPADLRI

ISANGCKVDN

SSLTGESEPQ

200

201

TRSPDFTNEN

PLETRNIAFF

STNCVEGTAR

GIVVYTGDRT

VMGRIATLAS

250

251

GLEGGQTPIA

AEIEHFIHII

TGVAVFLGVS

FFILSLILEY

TWLEAVIFLI

300

301

GIIVANVPEG

LLATVTVCLT

LTAKRMARKN

CLVKNLEAVE

TLGSTSTICS

350

351

DKTGTLTQNR

MTVAHMWSDN

QIHEADTTEN

QSGVSFDKTS

ATWLALSRIA

400

401

GLCNRAVFQA

NQENLPILKR

AVAGDASESA

LLKCIELCCG

SVKEMRERYT

450

451

KIVEIPFNST

NKYQLSIHKN

PNTAEPRHLL

VMKGAPERIL

DRCSSILIHG

500

501

KEQPLDEELK

DAFQNAYLEL

GGLGERVLGF

CHLFLPDEQF

PEGFQFDTDD

550

551

VNFPLDNLCF

VGLISMIDPP

RAAVPDAVGK

CRSAGIKVIM

VTGDHPITAK

600

601

AIAKGVGIIS

EGNETVEDIA

ARLNIPVSQV

NPRDAKACVV

HGSDLKDMTS

650

651

EQLDDILKYH

TEIVFARTSP

QQKLIIVEGC

QRQGAIVAVT

GDGVNDSPAS

700

701

KKADIGVAMG

IAGSDVSKQA

ADMILLDDNF

ASIVTGVEEG

RLIFDNLKKS

750

751

IAYTLTSNIP

EITPFLIFII

ANIPLPLGTV

TILCIDLGTD

MVPAISLAYE

800

801

QAESDIMKRQ

PRNPKTDKLV

NEQLISMAYG

QIGMIQALGG

FFTYFVILAE

850

851

NGFLPIHLLG

LRVNWDDRWI

NDVEDSYGQQ

WTYEQRKIVE

FTCHTPFFVT

900

901

IVVVQWADLV

ICKTRRNSVF

QQGMKNKILI

FGLFEETALA

AFLSYCPGMG

950

951

VALRMYPLKP

TWWFCAFPYS

LLIFVYDEVR

KLIIRRRPGG

WVEKETYY

1000

Variants

Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
23_LYS	MET	8.3kJPN chr1:160090766 rs1377838920	-	0.0001	-	-
41_LEU	ARG	ClinVar chr1:116927424 rs1553190285	Pathogenic	-	-	Charcot-Marie-tooth disease, axonal, type 2DD\|not provided\|Charcot-Marie-Tooth disease type 2A2 [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414\|MedGen:C3661900\|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947]
42_ASP	GLU	8.3kJPN chr1:116927428 -	-	0.0002	-	-
45_GLY	SER	8.3kJPN chr1:160091012 -	-	0.0001	-	-
46_ARG	HIS	gnomAD chr1:160091016 rs144106169	-	0.000123271	-	-
46_ARG	CYS	8.3kJPN chr1:160091015 rs747283283	-	0.0002	-	-
46_ARG	HIS	8.3kJPN chr1:160091016 rs144106169	-	0.0001	-	-
52_LEU	PRO	8.3kJPN chr1:160091034 rs748802547	-	0.0001	-	-
57_THR	ILE	8.3kJPN chr1:160093010 -	-	0.0001	-	-
59_GLN	LEU	8.3kJPN chr1:160093016 -	-	0.0001	-	-
60_ARG	LEU	gnomAD chr1:160093019 rs187733403	-	0.000342539	-	-
60_ARG	TRP	8.3kJPN chr1:160093018 rs121918619	-	0.0001	-	-
60_ARG	LEU	8.3kJPN chr1:160093019 rs187733403	-	0.0101	-	-
67_ARG	TER	8.3kJPN chr1:160093039 -	-	0.0001	-	-
87_ARG	GLN	8.3kJPN chr1:116930007 rs145341046	-	0.0001	-	-
92_GLY	SER	ClinVar chr19:42492180 rs1057522886	Likely pathogenic	-	-	not provided [MedGen:CN517202]
92_GLY	ALA	ClinVar chr19:42492179 rs1599725621	Pathogenic/Likely pathogenic	-	-	Dystonia 12\|not provided\|Hereditary ataxia [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0100309,MedGen:C0004138,Orphanet:183518]
92_GLY	CYS	ClinVar chr19:42492180 rs1057522886	Likely pathogenic	-	-	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]
95_MET	LEU	8.3kJPN chr1:116930030 -	-	0.0001	-	-
97_LEU	ARG	ClinVar chr1:116930037 rs11540945	Pathogenic	-	-	Aldosterone-producing adrenal cortex adenoma [MONDO:MONDO:0016505,MedGen:C1706762,Orphanet:231625]
97_LEU	PRO	ClinVar chr19:42492164 rs2514084596	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
109_GLY	SER	gnomAD chr1:160093165 rs116711766	-	0.000815278	-	-
110_ILE	THR	8.3kJPN chr1:116930076 -	-	0.0013	-	-
118_PRO	GLN	8.3kJPN chr1:160093193 rs1323826655	-	0.0001	-	-
130_ALA	VAL	ClinVar chr19:42490359 rs2075284959	Likely pathogenic	-	-	Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
132_VAL	MET	ClinVar chr19:42490354 rs1555865401	Pathogenic/Likely pathogenic	-	-	Juvenile onset psychosis\|not provided\|Dystonia 12\|Alternating hemiplegia of childhood 2\|ATP1A3-related disorder [\|MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|]
140_SER	PHE	ClinVar chr19:42490329 rs542652468	Pathogenic	-	-	Alternating hemiplegia of childhood 2\|Abnormal earlobe morphology [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|Human Phenotype Ontology:HP:0000363,MedGen:C4021808]; Epicanthus [Human Phenotype Ontology:HP:0000286,Human Phenotype Ontology:HP:0000624,Human Phenotype Ontology:HP:0007930,MedGen:C0678230,OMIM:131500]; Ventriculomegaly [Human Phenotype Ontology:HP:0002119,Human Phenotype Ontology:HP:0002447,Human Phenotype Ontology:HP:0005691,Human Phenotype Ontology:HP:0007071,MedGen:C3278923]; Depressed nasal bridge [Human Phenotype Ontology:HP:0000425,Human Phenotype Ontology:HP:0000428,Human Phenotype Ontology:HP:0000439,Human Phenotype Ontology:HP:0000459,Human Phenotype Ontology:HP:0004413,Human Phenotype Ontology:HP:0004505,Human Phenotype Ontology:HP:0004506,Human Phenotype Ontology:HP:0004666,Human Phenotype Ontology:HP:0005119,Human Phenotype Ontology:HP:0005280,Human Phenotype Ontology:HP:0005284,MedGen:C1836542]; Seizure\|Dystonia 12\|not provided [Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MedGen:C3661900]
140_SER	TYR	ClinVar chr19:42490329 rs542652468	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
142_TYR	CYS	8.3kJPN chr1:116930811 rs755220071	-	0.0001	-	-
143_GLN	LYS	8.3kJPN chr1:160093793 -	-	0.0001	-	-
157_MET	VAL	ClinVar chr19:42490279 rs1135401821	Likely pathogenic	-	-	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome\|Intellectual disability\|Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]; Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
170_LYS	ASN	8.3kJPN chr1:160094115 -	-	0.0001	-	-
186_VAL	MET	ClinVar chr1:160094161 rs869025341	Pathogenic	-	-	Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
189_GLY	TER	ClinVar chr1:160094170 -	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
197_ARG	TRP	ClinVar chr1:160094194 rs1219118149	Likely pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
197_ARG	GLN	ClinVar chr1:160094195 rs2524857474	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
200_SER	PHE	ClinVar chr1:116931378 -	Likely pathogenic	-	-	Charcot-Marie-tooth disease, axonal, type 2DD [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414]
224_PHE	LEU	8.3kJPN chr1:116931578 -	-	0.0002	-	-
225_THR	ILE	8.3kJPN chr19:42489517 -	-	0.0001	-	-
227_ASP	ASN	8.3kJPN chr19:42489512 rs1271282195	-	0.0003	-	-
248_ARG	HIS	8.3kJPN chr1:116932070 rs1258171077	-	0.0002	-	-
258_THR	MET	ClinVar chr1:160097381 rs777400961	Pathogenic/Likely pathogenic	-	-	not provided\|Familial hemiplegic migraine\|Migraine, familial hemiplegic, 2\|Developmental and epileptic encephalopathy 98 [MedGen:C3661900\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500\|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569\|MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605]
267_ALA	GLY	ClinVar chr1:116932127 rs2525834257	Likely pathogenic	-	-	Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314]
274_ARG	GLN	gnomAD chr1:160097429 rs373178892	-	0.000115342	-	-
274_ARG	GLN	8.3kJPN chr1:160097429 rs373178892	-	0.0001	-	-
277_ILE	THR	ClinVar chr19:42489242 rs80356532	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
277_ILE	ASN	ClinVar chr19:42489242 rs80356532	Pathogenic	-	-	Alternating hemiplegia of childhood 2\|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
277_ILE	PHE	ClinVar chr19:42489243 rs879975642	Likely pathogenic	-	-	ATP1A3-related disorder [-]
278_ALA	PRO	ClinVar chr19:42489240 -	Likely pathogenic	-	-	not provided\|Inborn genetic diseases [MedGen:C3661900\|MeSH:D030342,MedGen:C0950123]
280_GLU	LYS	ClinVar chr19:42489234 rs80356533	Pathogenic/Likely pathogenic	-	-	Dystonia 12\|not provided [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MedGen:C3661900]
281_ILE	THR	ClinVar chr1:160097450 rs121918617	Likely pathogenic	-	-	Migraine, familial hemiplegic, 2\|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
286_GLN	HIS	8.3kJPN chr1:160097466 -	-	0.0001	-	-
288_ILE	MET	ClinVar chr1:160097472 rs1553244746	Pathogenic	-	-	Inborn genetic diseases\|Alternating hemiplegia of childhood 1 [MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131]
288_ILE	LEU	8.3kJPN chr19:42489210 -	-	0.0009	-	-
289_THR	PRO	8.3kJPN chr19:42489207 -	-	0.0005	-	-
292_ALA	THR	ClinVar chr1:160097482 rs181618883	Pathogenic/Likely pathogenic	-	-	not provided\|Familial hemiplegic migraine\|Migraine, familial hemiplegic, 2 [MedGen:C3661900\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500\|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]; Alternating hemiplegia of childhood 1\|ATP1A2-related disorder\|Alternating hemiplegia of childhood 1\|Developmental and epileptic encephalopathy 98 [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131\|\|MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131\|MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605]
295_LEU	PRO	ClinVar chr1:116932211 rs1557785499	Pathogenic	-	-	Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314]
295_LEU	ARG	ClinVar chr19:42489188 rs2145977887	Pathogenic	-	-	Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
295_LEU	ARG	ClinVar chr1:116932211 rs1557785499	Pathogenic	-	-	Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314]
296_GLY	ARG	ClinVar chr1:160097494 rs121918612	Pathogenic	-	-	Migraine, familial hemiplegic, 2\|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
296_GLY	ARG	ClinVar chr1:116932213 rs1557785503	Pathogenic	-	-	Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314]
296_GLY	GLU	ClinVar chr1:160097495 rs2524865450	Likely pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
315_ILE	ASN	ClinVar chr1:160097552 -	Likely pathogenic	-	-	Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
319_GLY	SER	ClinVar chr19:42489117 rs869320661	Pathogenic	-	-	Dystonia 12\|ATP1A3-related disorder\|not provided [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|\|MedGen:C3661900]
319_GLY	VAL	ClinVar chr19:42489116 rs2145977758	Pathogenic	-	-	Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
321_ILE	MET	ClinVar chr19:42489109 rs529241207	Pathogenic/Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]; Alternating hemiplegia of childhood 2\|Dystonia 12\|not provided [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MedGen:C3661900]
323_ALA	THR	ClinVar chr19:42489105 rs879255368	Likely pathogenic	-	-	not provided [MedGen:CN517202]
323_ALA	PRO	ClinVar chr19:42489105 rs879255368	Pathogenic/Likely pathogenic	-	-	Hemiplegia [Human Phenotype Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991]; Delayed speech and language development [Human Phenotype Ontology:HP:0000750,Human Phenotype Ontology:HP:0002116,Human Phenotype Ontology:HP:0002117,Human Phenotype Ontology:HP:0002336,Human Phenotype Ontology:HP:0002399,Human Phenotype Ontology:HP:0002498,Human Phenotype Ontology:HP:0006936,Human Phenotype Ontology:HP:0007004,Human Phenotype Ontology:HP:0007127,Human Phenotype Ontology:HP:0007170,Human Phenotype Ontology:HP:0007172,MedGen:C0454644]; Oculogyric crisis [Human Phenotype Ontology:HP:0010553,MONDO:MONDO:0000483,MedGen:C0085637]; Apnea [Human Phenotype Ontology:HP:0002104,Human Phenotype Ontology:HP:0005936,Human Phenotype Ontology:HP:0005958,MedGen:C0003578]; Seizure\|Dystonia 12 [Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
325_VAL	GLY	ClinVar chr1:116932301 rs724160010	Pathogenic	-	-	Aldosterone-producing adrenal cortex adenoma [MONDO:MONDO:0016505,MedGen:C1706762,Orphanet:231625]
325_VAL	ILE	ClinVar chr19:42489099 -	Likely pathogenic	-	-	Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
326_PRO	SER	ClinVar chr19:42489096 rs864309572	Pathogenic/Likely pathogenic	-	-	not provided\|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome\|Dystonia 12 [MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
326_PRO	ARG	ClinVar chr1:116932304 rs1401759980	Likely pathogenic	-	-	Marfanoid habitus and intellectual disability [MedGen:CN263130]
326_PRO	ALA	ClinVar chr1:160097584 rs2524865640	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
327_GLU	GLY	ClinVar chr19:42489092 rs797044897	Pathogenic/Likely pathogenic	-	-	Inborn genetic diseases\|not provided\|Alternating hemiplegia of childhood 2 [MeSH:D030342,MedGen:C0950123\|MedGen:C3661900\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]; Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
327_GLU	GLY	ClinVar chr1:116932307 rs2101045655	Likely pathogenic	-	-	Charcot-Marie-tooth disease, axonal, type 2DD [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414]
327_GLU	ALA	ClinVar chr1:116932307 -	Likely pathogenic	-	-	not provided [MedGen:C3661900]
328_GLY	ASP	ClinVar chr19:42489089 rs863224847	Pathogenic/Likely pathogenic	-	-	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome\|not provided [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171\|MedGen:C3661900]
328_GLY	VAL	ClinVar chr19:42489089 -	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
329_LEU	ARG	ClinVar chr19:42489086 rs1131691307	Pathogenic/Likely pathogenic	-	-	not provided\|Dystonia 12 [MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
329_LEU	PRO	ClinVar chr19:42489086 rs1131691307	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
334_THR	PRO	ClinVar chr19:42489072 rs2514075131	Likely pathogenic	-	-	Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
336_CYS	PHE	ClinVar chr1:160098446 rs1057521630	Pathogenic	-	-	not provided\|Developmental and epileptic encephalopathy 98 [MedGen:C3661900\|MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605]
336_CYS	TYR	ClinVar chr19:42486254 rs606231430	Likely pathogenic	-	-	Alternating hemiplegia of childhood [MONDO:MONDO:0016241,MedGen:C0338488,OMIM:PS104290,Orphanet:2131]
336_CYS	TYR	ClinVar chr1:160098446 rs1057521630	Likely pathogenic	-	-	Developmental and epileptic encephalopathy 98\|Migraine, familial hemiplegic, 2 [MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605\|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
336_CYS	ARG	ClinVar chr1:160098445 rs2524867724	Likely pathogenic	-	-	Developmental and epileptic encephalopathy 98 [MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605]
336_CYS	TYR	ClinVar chr1:116932839 -	Likely pathogenic	-	-	Charcot-Marie-tooth disease, axonal, type 2DD [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414]
338_THR	LYS	ClinVar chr19:42486248 rs1131691940	Likely pathogenic	-	-	Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
340_THR	ALA	ClinVar chr1:160098457 rs121918613	Pathogenic	-	-	Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
341_ALA	PRO	ClinVar chr19:42486240 rs2145972624	Likely pathogenic	-	-	not provided [MedGen:C3661900]
346_ARG	GLN	8.3kJPN chr1:160098476 rs754655141	-	0.0001	-	-
349_CYS	ARG	ClinVar chr19:42486216 rs1599719534	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
357_VAL	MET	ClinVar chr1:160098508 rs2524867863	Likely pathogenic	-	-	not provided [MedGen:C3661900]
359_THR	MET	ClinVar chr1:160098515 rs1553244881	Pathogenic/Likely pathogenic	-	-	not provided\|Inborn genetic diseases\|Migraine, familial hemiplegic, 2\|Developmental and epileptic encephalopathy 98 [MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569\|MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605]
360_LEU	VAL	ClinVar chr19:42486183 -	Likely pathogenic	-	-	not provided [MedGen:C3661900]
361_GLY	CYS	ClinVar chr19:42486180 rs606231432	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
361_GLY	ARG	ClinVar chr19:42486180 rs606231432	Likely pathogenic	-	-	not provided [MedGen:C3661900]
361_GLY	SER	ClinVar chr1:160098520 rs1553244883	Pathogenic/Likely pathogenic	-	-	not provided\|Developmental and epileptic encephalopathy 98\|Familial hemiplegic migraine [MedGen:C3661900\|MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
361_GLY	VAL	ClinVar chr1:160098521 rs1057518514	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
361_GLY	ASP	ClinVar chr19:42486179 rs1555863693	Pathogenic	-	-	Dystonia 12\|Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]; Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]
361_GLY	SER	ClinVar chr19:42486180 rs606231432	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
362_SER	TYR	ClinVar chr19:42486176 rs2075237416	Likely pathogenic	-	-	ATP1A3-associated neurological disorder [MONDO:MONDO:0700002,MedGen:CN305087]
363_THR	MET	ClinVar chr1:160098527 rs746383817	Likely pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
363_THR	ARG	ClinVar chr19:42486173 rs2514066639	Pathogenic/Likely pathogenic	-	-	Dystonia 12\|Alternating hemiplegia of childhood 2 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
364_SER	PRO	ClinVar chr19:42486171 rs2145972497	Pathogenic	-	-	Developmental and epileptic encephalopathy 99\|Dystonia 12 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
366_ILE	THR	ClinVar chr19:42486164 rs2145972483	Pathogenic	-	-	Alternating hemiplegia of childhood 2\|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
367_CYS	ARG	ClinVar chr19:42486162 rs2075237136	Likely pathogenic	-	-	Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
370_LYS	ARG	ClinVar chr1:160098548 -	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
371_THR	MET	ClinVar chr1:160098551 rs121918620	Pathogenic/Likely pathogenic	-	-	Migraine, familial hemiplegic, 2\|Familial hemiplegic migraine\|not provided\|Inborn genetic diseases [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123]
372_GLY	VAL	ClinVar chr1:160098554 rs2524868153	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
372_GLY	VAL	ClinVar chr19:42486146 -	Likely pathogenic	-	-	not provided [MedGen:C3661900]
373_THR	ASN	ClinVar chr1:160098557 rs28934002	Pathogenic/Likely pathogenic	-	-	Alternating hemiplegia of childhood 1\|Familial hemiplegic migraine\|ATP1A2-related disorder [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500\|]
373_THR	ALA	ClinVar chr19:42486144 rs2145972442	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
373_THR	ILE	ClinVar chr19:42486143 rs573535377	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
373_THR	PRO	ClinVar chr1:160098556 -	Likely pathogenic	-	-	Developmental and epileptic encephalopathy 98 [MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605]
378_ARG	HIS	ClinVar chr1:160098572 rs765909830	Pathogenic/Likely pathogenic	-	-	not provided\|Alternating hemiplegia of childhood 1\|Familial hemiplegic migraine [MedGen:C3661900\|MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
381_VAL	ILE	8.3kJPN chr1:160098580 rs137878081	-	0.0001	-	-
387_ASP	ASN	8.3kJPN chr1:160098598 -	-	0.0001	-	-
388_ASN	SER	8.3kJPN chr1:116932995 rs138556439	-	0.0001	-	-
392_GLU	LYS	ClinVar chr19:42486087 rs1555863623	Pathogenic	-	-	Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
399_GLN	HIS	8.3kJPN chr1:160098636 -	-	0.0001	-	-
407_ARG	TER	ClinVar chr1:160098787 rs760155608	Pathogenic/Likely pathogenic	-	-	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies\|not provided\|Familial hemiplegic migraine [MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602\|MedGen:C3661900\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
416_ARG	TER	ClinVar chr1:160098814 rs1165052640	Pathogenic/Likely pathogenic	-	-	not provided\|Familial hemiplegic migraine [MedGen:C3661900\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
416_ARG	GLN	8.3kJPN chr1:160098815 rs139499540	-	0.0001	-	-
419_GLY	SER	8.3kJPN chr1:116933457 -	-	0.0001	-	-
431_GLU	LYS	8.3kJPN chr1:160098859 rs866493442	-	0.0001	-	-
434_PRO	HIS	8.3kJPN chr1:116933503 -	-	0.0004	-	-
464_ARG	TER	ClinVar chr1:160099134 rs2524869946	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
466_ARG	CYS	gnomAD chr19:42485704 rs150785666	-	0.00046522	-	-
467_ASN	SER	gnomAD chr1:160099144 rs529607288	-	0.000179217	-	-
480_LYS	TER	ClinVar chr1:160099182 rs2101989829	Pathogenic	-	-	Familial hemiplegic migraine\|Inborn genetic diseases [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500\|MeSH:D030342,MedGen:C0950123]
480_LYS	TER	ClinVar chr19:42485662 rs2145971509	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
482_GLN	TER	ClinVar chr1:160099188 -	Pathogenic	-	-	Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
487_GLU	LYS	gnomAD chr1:160099904 rs142348542	-	0.000441925	-	-
487_GLU	LYS	8.3kJPN chr1:160099904 rs142348542	-	0.0001	-	-
488_ARG	TER	ClinVar chr1:160099907 rs534696343	Pathogenic/Likely pathogenic	-	-	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies\|not provided\|Familial hemiplegic migraine [MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602\|MedGen:C3661900\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
488_ARG	TER	8.3kJPN chr1:160099907 rs534696343	-	0.0001	-	-
497_VAL	MET	gnomAD chr1:160099931 rs150465651	-	0.000202961	-	-
510_ARG	CYS	8.3kJPN chr1:116936234 rs574791429	-	0.0001	-	-
510_ARG	HIS	8.3kJPN chr1:116936235 rs11540949	-	0.0001	-	-
520_GLU	TER	ClinVar chr1:160100000 rs1651727299	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
525_LYS	GLN	8.3kJPN chr1:160100015 rs377024509	-	0.0009	-	-
526_GLU	GLY	8.3kJPN chr1:160100019 rs201296747	-	0.0002	-	-
528_LYS	TER	ClinVar chr19:42482815 -	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
542_GLY	ARG	ClinVar chr1:116936330 rs2101052251	Pathogenic/Likely pathogenic	-	-	not provided\|Charcot-Marie-tooth disease, axonal, type 2DD [MedGen:C3661900\|MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414]
544_ARG	HIS	ClinVar chr1:160100073 rs121918616	Pathogenic	-	-	Migraine, familial basilar\|not provided\|Familial hemiplegic migraine\|Migraine, familial hemiplegic, 2\|ATP1A2-related disorder\|Developmental and epileptic encephalopathy 98 [MedGen:C1865323\|MedGen:C3661900\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500\|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569\|\|MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605]
544_ARG	CYS	ClinVar chr1:160100072 rs1651731153	Pathogenic	-	-	not provided\|Familial hemiplegic migraine [MedGen:C3661900\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
551_LEU	VAL	8.3kJPN chr1:116937743 -	-	0.0001	-	-
552_ASN	TYR	gnomAD chr1:160100226 rs141467566	-	0.000178944	-	-
553_LEU	PRO	8.3kJPN chr1:160100230 -	-	0.0001	-	-
557_GLN	ARG	8.3kJPN chr1:116937762 rs754714789	-	0.0001	-	-
560_ARG	TRP	8.3kJPN chr1:160100250 rs762330744	-	0.0002	-	-
566_THR	MET	8.3kJPN chr1:160100269 rs758815329	-	-	-	-
573_ILE	VAL	gnomAD chr1:116937809 rs77217304	-	0.0218743	-	-
577_CYS	TER	ClinVar chr1:160100303 rs1570990484	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
585_ILE	THR	ClinVar chr1:116937846 rs1553192086	Pathogenic/Likely pathogenic	-	-	Charcot-Marie-tooth disease, axonal, type 2DD\|not provided\|Charcot-Marie-Tooth disease type 2A2 [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414\|MedGen:C3661900\|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947]
589_ARG	LEU	ClinVar chr1:160100338 rs1553245178	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
593_PRO	ALA	ClinVar chr1:116937869 rs1553192091	Pathogenic	-	-	Charcot-Marie-tooth disease, axonal, type 2DD\|Charcot-Marie-Tooth disease type 2A2\|not provided [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414\|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947\|MedGen:C3661900]
593_PRO	THR	ClinVar chr1:116937869 rs1553192091	Likely pathogenic	-	-	Charcot-Marie-tooth disease, axonal, type 2DD\|not provided\|Charcot-Marie-Tooth disease type 2A2 [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414\|MedGen:C3661900\|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947]
593_PRO	ARG	ClinVar chr1:116937870 rs2101055022	Likely pathogenic	-	-	Charcot-Marie-tooth disease, axonal, type 2DD [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414]
596_VAL	ALA	ClinVar chr1:160100359 -	Likely pathogenic	-	-	not provided [MedGen:C3661900]
600_ARG	HIS	ClinVar chr19:42482319 rs1599715341	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
600_ARG	TER	ClinVar chr1:160100370 rs1469902667	Pathogenic	-	-	not provided\|Familial hemiplegic migraine [MedGen:C3661900\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
600_ARG	PRO	ClinVar chr19:42482319 -	Likely pathogenic	-	-	Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
602_ALA	THR	ClinVar chr1:160100376 rs1414742926	Pathogenic	-	-	not provided\|Familial hemiplegic migraine\|ATP1A2-related disorder [MedGen:C3661900\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500\|]
602_ALA	GLU	ClinVar chr1:160100377 rs1553245183	Likely pathogenic	-	-	not provided [MedGen:CN517202]
604_ILE	VAL	8.3kJPN chr1:160100382 rs762121770	-	0.0002	-	-
611_GLY	ARG	ClinVar chr1:160104289 rs770053423	Pathogenic/Likely pathogenic	-	-	Alternating hemiplegia of childhood 1\|Familial hemiplegic migraine [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
612_ASP	TYR	ClinVar chr19:42482206 rs2075190697	Pathogenic/Likely pathogenic	-	-	Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
616_THR	MET	ClinVar chr19:42482193 rs80356534	Pathogenic	-	-	Dystonia 12\|not provided\|Alternating hemiplegia of childhood 2 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
624_VAL	MET	ClinVar chr1:160104328 rs1553245659	Pathogenic	-	-	not provided\|Familial hemiplegic migraine [MedGen:C3661900\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
626_ILE	LEU	ClinVar chr1:160104334 rs1382260409	Likely pathogenic	-	-	Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
640_ARG	HIS	gnomAD chr1:116939323 rs201085928	-	0.000104217	-	-
645_MET	LEU	8.3kJPN chr1:160104391 rs1259879948	-	0.0006	-	-
660_GLY	SER	ClinVar chr1:116940535 rs140135222	Likely pathogenic	-	-	not provided [MedGen:C3661900]
662_ASP	VAL	8.3kJPN chr1:160104967 -	-	0.0001	-	-
680_GLU	LYS	ClinVar chr19:42480633 rs868985739	Likely pathogenic	-	-	not provided [MedGen:C3661900]
685_ARG	GLN	ClinVar chr1:160105036 rs28933401	Likely pathogenic	-	-	Migraine, familial hemiplegic, 2\|not provided [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569\|MedGen:C3661900]
686_THR	LYS	ClinVar chr1:160105039 -	Likely pathogenic	-	-	Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
687_SER	TYR	ClinVar chr19:42480611 rs397515577	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
687_SER	PHE	ClinVar chr1:160105042 rs2524886291	Likely pathogenic	-	-	not provided [MedGen:C3661900]
708_THR	MET	ClinVar chr1:160105243 rs1651907319	Likely pathogenic	-	-	Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
709_GLY	ARG	ClinVar chr19:42479928 rs782175860	Pathogenic/Likely pathogenic	-	-	not provided\|Alternating hemiplegia of childhood 2\|Dystonia 12\|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome\|Developmental and epileptic encephalopathy 99 [MedGen:C3661900\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
709_GLY	ARG	ClinVar chr19:42479928 rs782175860	Pathogenic	-	-	Dystonia 12\|Seizure\|Inborn genetic diseases [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572\|MeSH:D030342,MedGen:C0950123]
711_GLY	ARG	ClinVar chr1:160105251 rs1553245771	Pathogenic	-	-	not provided\|Familial hemiplegic migraine\|Migraine, familial hemiplegic, 2 [MedGen:C3661900\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500\|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
713_ASN	LYS	ClinVar chr1:160105259 rs140707454	Pathogenic	-	-	not provided [MedGen:C3661900]
718_LEU	PRO	ClinVar chr19:42479900 rs2075159021	Pathogenic/Likely pathogenic	-	-	Dystonia 12\|Developmental and epileptic encephalopathy 99\|not provided [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MedGen:C3661900]
726_ALA	PRO	ClinVar chr19:42479877 rs2075158686	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
727_MET	THR	ClinVar chr1:160105300 rs28933400	Likely pathogenic	-	-	Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
733_ASP	GLY	8.3kJPN chr1:160105318 rs1418054654	-	0.0001	-	-
734_VAL	ILE	8.3kJPN chr1:160105320 rs1558008569	-	0.0001	-	-
735_SER	TYR	ClinVar chr19:42479849 rs1599712523	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
745_ASP	TYR	ClinVar chr19:42479820 rs1135401822	Pathogenic/Likely pathogenic	-	-	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome\|Dystonia 12 [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
745_ASP	VAL	ClinVar chr19:42479819 rs2145959393	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
750_SER	TYR	ClinVar chr19:42479804 rs2514046994	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
754_GLY	GLU	ClinVar chr19:42479792 rs1599712456	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
754_GLY	ALA	gnomAD chr1:160105381 rs147183887	-	0.000298382	-	-
758_GLY	ALA	ClinVar chr19:42474694 rs606231434	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
758_GLY	CYS	ClinVar chr19:42479781 rs557052809	Pathogenic	-	-	Dystonia 12\|not provided [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MedGen:C3661900]
758_GLY	SER	ClinVar chr19:42479781 rs557052809	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
759_ARG	HIS	ClinVar chr19:42474691 rs606231435	Pathogenic/Likely pathogenic	-	-	Dystonia 12\|not provided\|Alternating hemiplegia of childhood 2\|Inborn genetic diseases\|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome\|ATP1A3-associated neurological disorder\|ATP1A3-related disorder [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171\|MONDO:MONDO:0700002,MedGen:CN305087\|]
759_ARG	CYS	ClinVar chr19:42474692 rs1064797245	Pathogenic/Likely pathogenic	-	-	not provided\|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]; Alternating hemiplegia of childhood 2\|Alternating hemiplegia of childhood 2\|Inborn genetic diseases\|Dystonia 12\|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome\|ATP1A3-related disorder\|ATP1A3-associated neurological disorder\|Seizure [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171\|\|MONDO:MONDO:0700002,MedGen:CN305087\|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572]
759_ARG	LEU	ClinVar chr19:42474691 rs606231435	Pathogenic	-	-	Dystonia 12\|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]
759_ARG	SER	ClinVar chr19:42474692 rs1064797245	Likely pathogenic	-	-	Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
759_ARG	LEU	ClinVar chr1:160105632 rs1403515889	Likely pathogenic	-	-	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies [MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602]
760_LEU	PRO	ClinVar chr1:160105635 rs28933398	Pathogenic	-	-	Migraine, familial hemiplegic, 2\|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
760_LEU	PRO	ClinVar chr19:42474688 rs606231436	Likely pathogenic	-	-	not provided [MedGen:C3661900]
761_ILE	SER	ClinVar chr19:42474685 rs80356535	Likely pathogenic	-	-	Dystonia 12\|not provided [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MedGen:C3661900]
771_TYR	CYS	ClinVar chr19:42474655 rs1599706613	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
771_TYR	ASP	ClinVar chr1:160105667 rs2101995474	Likely pathogenic	-	-	not provided [MedGen:C3661900]
771_TYR	SER	ClinVar chr19:42474655 -	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
774_THR	ILE	ClinVar chr19:42474646 rs557939077	Pathogenic	-	-	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]
775_SER	ASN	ClinVar chr19:42474643 rs1064795234	Pathogenic/Likely pathogenic	-	-	not provided\|Dystonia 12 [MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
775_SER	ASN	ClinVar chr1:160105680 rs2101995480	Likely pathogenic	-	-	Alternating hemiplegia of childhood 1 [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131]
776_ASN	SER	ClinVar chr19:42474640 rs606231437	Pathogenic	-	-	Alternating hemiplegia of childhood 2\|not provided\|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
778_PRO	LEU	ClinVar chr19:42474634 rs886041396	Pathogenic/Likely pathogenic	-	-	not provided\|Dystonia 12\|Inborn genetic diseases\|Developmental and epileptic encephalopathy 99\|ATP1A3-related disorder [MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|]
778_PRO	THR	ClinVar chr19:42474635 rs1555859593	Likely pathogenic	-	-	Inborn genetic diseases\|not provided [MeSH:D030342,MedGen:C0950123\|MedGen:C3661900]
779_GLU	ASP	ClinVar chr19:42474630 rs1085307992	Likely pathogenic	-	-	not provided [MedGen:CN517202]
779_GLU	LYS	ClinVar chr19:42474632 rs2145948130	Likely pathogenic	-	-	not provided [MedGen:C3661900]
780_ILE	ASN	ClinVar chr19:42474628 rs1599706522	Pathogenic/Likely pathogenic	-	-	Alternating hemiplegia of childhood\|ATP1A3-associated neurological disorder [MONDO:MONDO:0016241,MedGen:C0338488,OMIM:PS104290,Orphanet:2131\|MONDO:MONDO:0700002,MedGen:CN305087]
781_THR	PRO	ClinVar chr19:42474626 rs1599706511	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
782_PRO	LEU	ClinVar chr1:160105701 rs1209724722	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
783_PHE	LEU	ClinVar chr19:42474620 rs80356536	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
790_ASN	SER	8.3kJPN chr1:160105725 rs1207066234	-	0.0001	-	-
792_PRO	ARG	ClinVar chr1:160105731 rs1651922528	Likely pathogenic	-	-	not provided [MedGen:C3661900]
804_ASP	TYR	ClinVar chr19:42474557 rs80356537	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
804_ASP	ASN	ClinVar chr19:42474557 rs80356537	Pathogenic	-	-	Alternating hemiplegia of childhood 2\|not provided\|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Dystonia 12\|Inborn genetic diseases\|Dystonia 12\|Tetraparesis [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|Human Phenotype Ontology:HP:0002273,Human Phenotype Ontology:HP:0002338,MedGen:C0270790]; Dystonic disorder [Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421]; Oculogyric crisis\|ATP1A3-related disorder\|Developmental and epileptic encephalopathy 99\|Alternating hemiplegia of childhood 2 [Human Phenotype Ontology:HP:0010553,MONDO:MONDO:0000483,MedGen:C0085637\|\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]; Developmental and epileptic encephalopathy 99\|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]
804_ASP	HIS	ClinVar chr19:42474557 rs80356537	Likely pathogenic	-	-	Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
804_ASP	GLU	ClinVar chr1:160105768 rs1570994712	Likely pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
806_GLY	ASP	ClinVar chr19:42474550 rs1555859571	Pathogenic/Likely pathogenic	-	-	Dystonia 12\|not provided [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MedGen:C3661900]
806_GLY	ARG	ClinVar chr19:42474551 rs2075090666	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
806_GLY	SER	ClinVar chr19:42474551 rs2075090666	Pathogenic	-	-	not provided\|Alternating hemiplegia of childhood 2 [MedGen:C3661900\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
807_THR	ARG	ClinVar chr1:160105776 rs2524888699	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
808_ASP	GLU	ClinVar chr19:42474543 rs606231439	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
808_ASP	HIS	ClinVar chr1:160105778 rs1558008759	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
808_ASP	GLU	ClinVar chr19:42474543 rs606231439	Likely pathogenic	-	-	Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
809_MET	ARG	ClinVar chr19:42474541 rs549006436	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
809_MET	LYS	ClinVar chr1:160105782 rs796052277	Pathogenic/Likely pathogenic	-	-	not provided\|Developmental and epileptic encephalopathy 98\|Migraine, familial hemiplegic, 2 [MedGen:C3661900\|MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605\|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
811_PRO	ARG	ClinVar chr1:160106041 -	Likely pathogenic	-	-	Alternating hemiplegia of childhood 1 [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131]; Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies [MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602]; Developmental and epileptic encephalopathy 98 [MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605]
811_PRO	LEU	ClinVar chr19:42474456 -	Pathogenic/Likely pathogenic	-	-	Dystonia 12\|Alternating hemiplegia of childhood 2 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
812_ALA	PRO	ClinVar chr19:42474454 rs2514032567	Pathogenic	-	-	Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
814_SER	PRO	ClinVar chr19:42474448 rs387907282	Pathogenic	-	-	Alternating hemiplegia of childhood 2\|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
818_GLU	LYS	ClinVar chr19:42474436 rs387907281	Pathogenic	-	-	Alternating hemiplegia of childhood 2\|Dystonia 12\|not provided\|Global developmental delay [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874]; Oculogyric crisis [Human Phenotype Ontology:HP:0010553,MONDO:MONDO:0000483,MedGen:C0085637]; Hemiplegia\|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [Human Phenotype Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Dystonia 12\|not specified\|Inborn genetic diseases\|Developmental and epileptic encephalopathy 99\|Dyskinesia [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|Human Phenotype Ontology:HP:0100660,MedGen:C0013384]; Neurodevelopmental delay [Human Phenotype Ontology:HP:0012758,MedGen:C4022738]; Seizure [Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572]; Dystonic disorder\|Seizure [Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421\|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572]
821_GLU	LYS	ClinVar chr19:42474427 rs587777771	Pathogenic	-	-	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome\|Alternating hemiplegia of childhood 2\|Inborn genetic diseases\|Dystonia 12\|not provided [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MedGen:C3661900]
823_ASP	ASN	8.3kJPN chr19:42474421 rs782378337	-	0.0001	-	-
825_MET	VAL	ClinVar chr1:160106082 rs2101995847	Likely pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
828_GLN	TER	ClinVar chr1:160106091 -	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
830_ARG	GLN	ClinVar chr1:160106098 rs2101995864	Pathogenic	-	-	Familial hemiplegic migraine\|Migraine, familial hemiplegic, 2 [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500\|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
830_ARG	TRP	ClinVar chr19:42474400 rs2514032458	Pathogenic	-	-	Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
830_ARG	LEU	ClinVar chr1:160106098 rs2101995864	Likely pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
833_ARG	GLN	8.3kJPN chr19:42474390 rs368371895	-	0.0001	-	-
837_LEU	PRO	ClinVar chr1:116942124 rs1653241392	Likely pathogenic	-	-	Charcot-Marie-tooth disease, axonal, type 2DD\|Intellectual disability [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]
837_LEU	SER	ClinVar chr19:42474378 -	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
842_LEU	PRO	ClinVar chr19:42474363 -	Likely pathogenic	-	-	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]
846_ALA	ASP	ClinVar chr19:42474351 rs2514032270	Likely pathogenic	-	-	Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
846_ALA	THR	ClinVar chr19:42474352 -	Likely pathogenic	-	-	Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
851_GLY	GLU	ClinVar chr1:160106360 rs149144720	Pathogenic	-	-	Familial hemiplegic migraine\|Migraine, familial hemiplegic, 2 [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500\|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
851_GLY	ARG	ClinVar chr1:160106160 rs1553245857	Pathogenic	-	-	not provided\|Familial hemiplegic migraine\|Migraine, familial hemiplegic, 2 [MedGen:C3661900\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500\|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]; Alternating hemiplegia of childhood 1\|Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131\|MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602]; Developmental and epileptic encephalopathy 98 [MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605]; Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]; Alternating hemiplegia of childhood 1 [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131]
851_GLY	ALA	ClinVar chr19:42473732 rs1599705281	Likely pathogenic	-	-	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]
852_MET	ARG	ClinVar chr1:116943486 rs781629728	Likely pathogenic	-	-	Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314]
854_GLN	ARG	ClinVar chr19:42473723 rs2145946065	Likely pathogenic	-	-	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome\|not provided [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171\|MedGen:C3661900]
854_GLN	PRO	ClinVar chr19:42473723 rs2145946065	Pathogenic	-	-	Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
857_GLY	ARG	ClinVar chr1:116943500 -	Likely pathogenic	-	-	Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314]
870_GLY	ASP	ClinVar chr19:42473675 rs606231442	Pathogenic	-	-	not provided\|Dystonia 12 [MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
870_GLY	SER	ClinVar chr1:116943539 -	Pathogenic	-	-	not provided [MedGen:C3661900]
874_GLY	SER	8.3kJPN chr19:42473664 rs554237072	-	0.0001	-	-
883_TRP	ARG	ClinVar chr1:160106455 rs28933399	Pathogenic	-	-	Migraine, familial hemiplegic, 2\|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
888_VAL	ILE	gnomAD chr19:42473622 rs149600313	-	0.000139173	-	-
896_GLY	ARG	ClinVar chr1:160106494 rs1553245908	Likely pathogenic	-	-	not provided [MedGen:C3661900]
896_GLY	ARG	ClinVar chr19:42473598 rs1568853466	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
896_GLY	ARG	ClinVar chr19:42473598 rs1568853466	Pathogenic	-	-	not provided\|Dystonia 12 [MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
899_TRP	ARG	ClinVar chr19:42473589 rs2145945797	Likely pathogenic	-	-	Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
899_TRP	TER	ClinVar chr1:160106504 rs2524891325	Pathogenic	-	-	Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
904_ARG	GLN	ClinVar chr1:160106704 rs2101996488	Pathogenic/Likely pathogenic	-	-	not provided\|Migraine, familial hemiplegic, 2\|Developmental and epileptic encephalopathy 98 [MedGen:C3661900\|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569\|MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605]
910_THR	MET	8.3kJPN chr1:160106722 rs1205366030	-	0.0001	-	-
911_CYS	SER	8.3kJPN chr19:42473033 -	-	0.0001	-	-
916_PHE	TYR	ClinVar chr1:116943801 rs2101066445	Likely pathogenic	-	-	not provided [MedGen:C3661900]
919_ILE	LEU	ClinVar chr19:42473010 -	Likely pathogenic	-	-	ATP1A3-related disorder [-]
921_VAL	MET	8.3kJPN chr1:160106754 -	-	0.0001	-	-
922_VAL	LEU	ClinVar chr1:160106757 rs1651973884	Likely pathogenic	-	-	not provided [MedGen:C3661900]
923_GLN	ARG	ClinVar chr19:42472997 rs2075071667	Likely pathogenic	-	-	Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
923_GLN	PRO	ClinVar chr19:42472997 rs2075071667	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
924_TRP	TER	ClinVar chr19:42472993 rs1060500993	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
924_TRP	ARG	ClinVar chr1:116943824 rs1570980551	Pathogenic	-	-	Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314]
924_TRP	ARG	ClinVar chr19:42472995 -	Likely pathogenic	-	-	ATP1A3-related disorder [-]
926_ASP	ASN	ClinVar chr19:42472989 rs267606670	Pathogenic	-	-	Dystonia 12\|Alternating hemiplegia of childhood 2\|Alternating hemiplegia of childhood 2 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12\|ATP1A3-associated neurological disorder\|not provided\|Seizure\|ATP1A3-related disorder [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MONDO:MONDO:0700002,MedGen:CN305087\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572\|]
926_ASP	TYR	ClinVar chr19:42472989 rs267606670	Pathogenic	-	-	Alternating hemiplegia of childhood 2\|not provided\|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
926_ASP	ALA	ClinVar chr19:42472988 rs2075071528	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
926_ASP	ASN	ClinVar chr1:116943830 rs2101066493	Pathogenic/Likely pathogenic	-	-	not provided\|Inborn genetic diseases [MedGen:C3661900\|MeSH:D030342,MedGen:C0950123]
926_ASP	HIS	ClinVar chr19:42472989 rs267606670	Pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
926_ASP	VAL	ClinVar chr1:160106770 -	Likely pathogenic	-	-	Hemiplegic migraine-developmental and epileptic encephalopathy spectrum [MONDO:MONDO:0100539,MedGen:CN377181]
927_LEU	PRO	ClinVar chr19:42472985 rs1555859157	Pathogenic	-	-	Inborn genetic diseases\|Dystonia 12 [MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
930_CYS	PHE	ClinVar chr19:42472976 rs606231444	Pathogenic	-	-	not provided [MedGen:C3661900]
930_CYS	TYR	ClinVar chr19:42472976 rs606231444	Likely pathogenic	-	-	Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]; Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
930_CYS	ARG	ClinVar chr19:42472977 -	Likely pathogenic	-	-	not provided [MedGen:C3661900]
933_ARG	HIS	ClinVar chr1:160106791 rs1553245943	Likely pathogenic	-	-	Inborn genetic diseases\|Familial hemiplegic migraine\|not provided [MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500\|MedGen:C3661900]
933_ARG	CYS	ClinVar chr1:160106790 rs1558009266	Likely pathogenic	-	-	Alternating hemiplegia of childhood 1 [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131]; Migraine, familial hemiplegic, 2\|not provided [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569\|MedGen:C3661900]
939_GLN	TER	ClinVar chr19:42472950 rs1555859144	Pathogenic	-	-	not provided [MedGen:CN517202]
939_GLN	TER	ClinVar chr1:160106808 rs1651975273	Likely pathogenic	-	-	not provided [MedGen:C3661900]
950_GLY	ARG	ClinVar chr19:42471896 rs398122887	Pathogenic	-	-	Alternating hemiplegia of childhood 2\|Epilepsy [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544]; Hemiplegia\|not provided\|Dystonia 12\|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [Human Phenotype Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991\|MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Dystonia 12\|ATP1A3-related disorder [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517\|]
950_GLY	ARG	ClinVar chr19:42471896 rs398122887	Pathogenic	-	-	Alternating hemiplegia of childhood 2\|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
950_GLY	GLU	ClinVar chr19:42471895 rs886041431	Pathogenic	-	-	not provided\|Alternating hemiplegia of childhood 2 [MedGen:C3661900\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
950_GLY	TRP	ClinVar chr19:42471896 rs398122887	Pathogenic/Likely pathogenic	-	-	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]; Alternating hemiplegia of childhood 2\|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
953_GLU	TER	ClinVar chr1:160109458 rs1558010146	Pathogenic	-	-	Polymicrogyria\|not provided\|Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies [Human Phenotype Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981\|MedGen:C3661900\|MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602]
954_GLU	LYS	ClinVar chr19:42471884 rs2145942372	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
958_ALA	SER	8.3kJPN chr1:160109473 -	-	0.0001	-	-
966_GLY	ARG	ClinVar chr19:42471848 -	Likely pathogenic	-	-	Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
975_PRO	LEU	ClinVar chr1:160109525 rs121918615	Pathogenic	-	-	Migraine, familial hemiplegic, 2\|Familial hemiplegic migraine\|not provided\|Alternating hemiplegia of childhood 1 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500\|MedGen:C3661900\|MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131]; Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
981_TRP	TER	ClinVar chr19:42471481 -	Likely pathogenic	-	-	Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
995_ASP	TYR	ClinVar chr19:42471440 rs606231447	Likely pathogenic	-	-	not provided [MedGen:C3661900]
995_ASP	HIS	ClinVar chr1:160109735 -	Pathogenic	-	-	not provided [MedGen:C3661900]
998_ARG	GLN	ClinVar chr1:160109745 rs757310141	Pathogenic/Likely pathogenic	-	-	not provided\|Migraine, familial hemiplegic, 2\|Familial hemiplegic migraine [MedGen:C3661900\|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
1003_ARG	GLN	8.3kJPN chr1:160109760 rs754878991	-	0.0001	-	-
1004_ARG	GLN	8.3kJPN chr1:160109763 rs781023681	-	0.0009	-	-
1005_TYR	TER	ClinVar chr1:160109767 rs1570998206	Pathogenic/Likely pathogenic	-	-	Epilepsy\|Familial hemiplegic migraine\|not provided [MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544\|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500\|MedGen:C3661900]
1007_GLY	ALA	8.3kJPN chr19:42471403 rs782204932	-	0.0001	-	-

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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

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Variants

Reference

	Q58K79	Na+/K+ ATPase gamma subunit transcript variant a
	P05027	Sodium/potassium-transporting ATPase subunit beta-1