PDB ID 3B8E     CHAIN A
Protein name Sodium/potassium-transporting ATPase subunit alpha-1
Uniprot Accession P05024
The number of similar proteins 10
The number of binding states 4
The number of binding partners 4

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  

Downdload

Format:

Molecule viewer

#binding
partners
  3
  2
  1
  0

Sequence information

1   AKKERDMDEL   KKEVSMDDHK   LSLDELHRKY   GTDLSRGLTP   ARAAEILARD   50
51   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
(4.7kJPN)
Disease name
23_LYS MET 4.7kJPN
chr1:160090766
rs1377838920
- 0.0001 -
41_LEU ARG ClinVar
chr1:116927424
rs1553190285
Pathogenic - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD [MedGen:CN248781,OMIM:618036]
42_ASP GLU 4.7kJPN
chr1:116927428
-
- 0.0001 -
46_ARG CYS 4.7kJPN
chr1:160091015
rs747283283
- 0.0003 -
52_LEU PRO 4.7kJPN
chr1:160091034
rs748802547
- 0.0001 -
57_THR ILE 4.7kJPN
chr1:160093010
-
- 0.0001 -
60_ARG LEU 4.7kJPN
chr1:160093019
rs187733403
- 0.0108 -
67_ARG TER 4.7kJPN
chr1:160093039
-
- 0.0001 -
95_MET LEU 4.7kJPN
chr1:116930030
-
- 0.0002 -
97_LEU ARG ClinVar
chr1:116930037
rs11540945
Pathogenic - Aldosterone Producing Adrenal Cortex Adenoma [MedGen:C1706762]
118_PRO GLN 4.7kJPN
chr1:160093193
rs1323826655
- 0.0001 -
127_ILE MET 4.7kJPN
chr19:42490367
-
- 0.0001 -
127_ILE VAL 4.7kJPN
chr19:42490369
-
- 0.0001 -
130_ALA SER 4.7kJPN
chr19:42490360
-
- 0.0001 -
132_VAL MET ClinVar
chr19:42490354
rs1555865401
Pathogenic - Juvenile onset psychosis [MedGen:CN236437]
140_SER PHE ClinVar
chr19:42490329
rs542652468
Pathogenic - Abnormality of earlobe [Human Phenotype Ontology:HP:0000363,MedGen:C4021808]; Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Depressed nasal bridge [Human Phenotype Ontology:HP:0005280,MedGen:C1836542]; Epicanthus [Human Phenotype Ontology:HP:0000286,MedGen:C0678230,OMIM:131500]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; Ventriculomegaly [Human Phenotype Ontology:HP:0002119,MedGen:C3278923]
140_SER TYR ClinVar
chr19:42490329
rs542652468
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
142_TYR CYS 4.7kJPN
chr1:116930811
rs755220071
- 0.0001 -
143_GLN LEU ClinVar
chr19:42490320
rs606231427
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
143_GLN LYS 4.7kJPN
chr1:160093793
-
- 0.0001 -
157_MET VAL ClinVar
chr19:42490279
rs1135401821
Likely pathogenic - Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss [MedGen:C1832466,OMIM:601338,Orphanet:ORPHA1171]
170_LYS ASN 4.7kJPN
chr1:160094115
-
- 0.0001 -
186_VAL MET ClinVar
chr1:160094161
rs869025341
Pathogenic - Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
224_PHE LEU 4.7kJPN
chr1:116931578
-
- 0.0002 -
225_THR ILE 4.7kJPN
chr19:42489517
-
- 0.0001 -
227_ASP ASN 4.7kJPN
chr19:42489512
rs1271282195
- 0.0001 -
248_ARG HIS 4.7kJPN
chr1:116932070
rs1258171077
- 0.0002 -
258_THR MET ClinVar
chr1:160097381
-
Pathogenic - not provided [MedGen:CN517202]
277_ILE THR ClinVar
chr19:42489242
rs80356532
Pathogenic - Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
277_ILE ASN ClinVar
chr19:42489242
rs80356532
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
280_GLU LYS ClinVar
chr19:42489234
rs80356533
Pathogenic - Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
281_ILE THR ClinVar
chr1:160097450
rs121918617
Pathogenic - Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
286_GLN HIS 4.7kJPN
chr1:160097466
-
- 0.0001 -
288_ILE MET ClinVar
chr1:160097472
rs1553244746
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
288_ILE LEU 4.7kJPN
chr19:42489210
-
- 0.0001 -
296_GLY ARG ClinVar
chr1:160097494
rs121918612
Pathogenic - Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
305_ILE SER 4.7kJPN
chr1:160097522
-
- 0.0001 -
319_GLY SER ClinVar
chr19:42489117
rs869320661
Pathogenic - Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
323_ALA THR ClinVar
chr19:42489105
rs879255368
Likely pathogenic - not provided [MedGen:CN517202]
323_ALA PRO ClinVar
chr19:42489105
rs879255368
Likely pathogenic - Apnea [Human Phenotype Ontology:HP:0002104,MedGen:C0003578]; Delayed speech and language development [Human Phenotype Ontology:HP:0000750,MedGen:C0454644]; Hemiplegia [Human Phenotype Ontology:HP:0002301,MedGen:C0018991]; Oculogyric crisis [Human Phenotype Ontology:HP:0010553,MedGen:C0085637]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]
325_VAL ASP ClinVar
chr19:42489098
rs606231428
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
325_VAL GLY ClinVar
chr1:116932301
rs724160010
Pathogenic - Aldosterone Producing Adrenal Cortex Adenoma [MedGen:C1706762]
326_PRO SER ClinVar
chr19:42489096
rs864309572
Pathogenic - not provided [MedGen:CN517202]
327_GLU GLY ClinVar
chr19:42489092
rs797044897
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
328_GLY ASP ClinVar
chr19:42489089
rs863224847
Likely pathogenic - Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss [MedGen:C1832466,OMIM:601338,Orphanet:ORPHA1171]
329_LEU ARG ClinVar
chr19:42489086
rs1131691307
Likely pathogenic - not provided [MedGen:CN517202]
336_CYS PHE ClinVar
chr19:42486254
rs606231430
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
336_CYS PHE ClinVar
chr1:160098446
rs1057521630
Likely pathogenic - not provided [MedGen:CN517202]
338_THR PRO ClinVar
chr19:42486249
rs606231431
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
338_THR MET ClinVar
chr19:42486248
rs1131691940
Likely pathogenic - not provided [MedGen:CN517202]
338_THR LYS ClinVar
chr19:42486248
rs1131691940
Likely pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
340_THR ALA ClinVar
chr1:160098457
rs121918613
Pathogenic - Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
346_ARG GLN 4.7kJPN
chr1:160098476
rs754655141
- 0.0002 -
346_ARG GLN 4.7kJPN
chr19:42486224
rs782244845
- 0.0001 -
361_GLY CYS ClinVar
chr19:42486180
rs606231432
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
361_GLY ARG ClinVar
chr19:42486180
rs606231432
Likely pathogenic - not provided [MedGen:CN517202]
361_GLY SER ClinVar
chr1:160098520
rs1553244883
Likely pathogenic - not provided [MedGen:CN517202]
371_THR MET ClinVar
chr1:160098551
rs121918620
Pathogenic - Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
371_THR ARG ClinVar
chr1:160098551
rs121918620
Pathogenic - not provided [MedGen:CN517202]
373_THR ASN ClinVar
chr1:160098557
rs28934002
Pathogenic - Alternating hemiplegia of childhood 1 [MedGen:C3549447,OMIM:104290]
373_THR ASN ClinVar
chr19:42486143
rs573535377
Pathogenic - Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
374_LEU PRO ClinVar
chr19:42486140
rs606231433
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
378_ARG HIS ClinVar
chr1:160098572
rs765909830
Likely pathogenic - not provided [MedGen:CN517202]
378_ARG HIS ClinVar
chr19:42486128
rs200891944
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
378_ARG SER 4.7kJPN
chr19:42486129
-
- 0.0001 -
381_VAL ILE 4.7kJPN
chr1:160098580
rs137878081
- 0.0001 -
385_TRP ARG ClinVar
chr19:42486108
rs606231448
Pathogenic - Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
387_ASP ASN 4.7kJPN
chr1:160098598
-
- 0.0001 -
388_ASN SER 4.7kJPN
chr1:116932995
rs138556439
- 0.0001 -
399_GLN HIS 4.7kJPN
chr1:160098636
-
- 0.0001 -
416_ARG TER ClinVar
chr1:160098814
rs1165052640
Pathogenic/Likely pathogenic - Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]; not provided [MedGen:CN517202]
416_ARG GLN 4.7kJPN
chr1:160098815
rs139499540
- 0.0001 -
420_LEU PRO ClinVar
chr19:42485926
rs606231449
Pathogenic - Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
434_PRO HIS 4.7kJPN
chr1:116933503
-
- 0.0005 -
510_ARG CYS 4.7kJPN
chr1:116936234
rs574791429
- 0.0001 -
510_ARG HIS 4.7kJPN
chr1:116936235
rs11540949
- 0.0001 -
525_LYS GLN 4.7kJPN
chr1:160100015
rs377024509
- 0.001 -
526_GLU GLY 4.7kJPN
chr1:160100019
rs201296747
- 0.0001 -
544_ARG HIS ClinVar
chr1:160100073
rs121918616
Pathogenic - Migraine, familial basilar [MedGen:C1865323]; not provided [MedGen:CN517202]
556_GLU ASP 4.7kJPN
chr19:42482450
-
- 0.0001 -
557_GLN ARG 4.7kJPN
chr1:116937762
rs754714789
- 0.0001 -
558_PHE TYR 4.7kJPN
chr19:42482445
-
- 0.0001 -
560_ARG TRP 4.7kJPN
chr1:160100250
rs762330744
- 0.0002 -
572_THR SER 4.7kJPN
chr19:42482403
-
- 0.0001 -
572_THR PRO 4.7kJPN
chr19:42482404
-
- 0.0001 -
574_ASP GLU 4.7kJPN
chr19:42482396
-
- 0.0001 -
575_ASN LYS 4.7kJPN
chr19:42482393
-
- 0.0001 -
579_VAL MET 4.7kJPN
chr19:42482383
rs782422094
- 0.0001 -
581_LEU ILE 4.7kJPN
chr19:42482377
-
- 0.0001 -
585_ILE THR ClinVar
chr1:116937846
rs1553192086
Pathogenic - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD [MedGen:CN248781,OMIM:618036]
589_ARG GLN ClinVar
chr1:160100338
rs1553245178
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
593_PRO ALA ClinVar
chr1:116937869
rs1553192091
Pathogenic - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD [MedGen:CN248781,OMIM:618036]
593_PRO THR ClinVar
chr1:116937869
rs1553192091
Pathogenic - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD [MedGen:CN248781,OMIM:618036]
600_ARG SER 4.7kJPN
chr19:42482320
-
- 0.0001 -
602_ALA THR ClinVar
chr1:160100376
rs1414742926
Pathogenic - not provided [MedGen:CN517202]
602_ALA GLU ClinVar
chr1:160100377
rs1553245183
Likely pathogenic - not provided [MedGen:CN517202]
604_ILE VAL 4.7kJPN
chr1:160100382
rs762121770
- 0.0001 -
616_THR MET ClinVar
chr19:42482193
rs80356534
Pathogenic - Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; not provided [MedGen:CN517202]
624_VAL MET ClinVar
chr1:160104328
rs1553245659
Pathogenic - not provided [MedGen:CN517202]
662_ASP VAL 4.7kJPN
chr1:160104967
-
- 0.0001 -
685_ARG GLN ClinVar
chr1:160105036
rs28933401
Pathogenic - Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
687_SER PHE ClinVar
chr19:42480611
rs397515577
Pathogenic - Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
709_GLY ARG ClinVar
chr19:42479928
rs782175860
Pathogenic - not provided [MedGen:CN517202]
711_GLY ARG ClinVar
chr1:160105251
rs1553245771
Pathogenic/Likely pathogenic - Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]; not provided [MedGen:CN517202]
714_ASP ASN ClinVar
chr1:160105260
rs121918614
Pathogenic - Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
725_ILE VAL 4.7kJPN
chr1:160105293
-
- 0.0001 -
727_MET THR ClinVar
chr1:160105300
rs28933400
Pathogenic - Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
730_SER ALA 4.7kJPN
chr1:160105308
-
- 0.0001 -
733_ASP GLY 4.7kJPN
chr1:160105318
rs1418054654
- 0.0001 -
734_VAL ILE ClinVar
chr19:42479853
rs1131691813
Likely pathogenic - not provided [MedGen:CN517202]
734_VAL ILE 4.7kJPN
chr1:160105320
-
- 0.0001 -
745_ASP TYR ClinVar
chr19:42479820
rs1135401822
Likely pathogenic - Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss [MedGen:C1832466,OMIM:601338,Orphanet:ORPHA1171]
758_GLY ALA ClinVar
chr19:42474694
rs606231434
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
758_GLY CYS ClinVar
chr19:42479781
rs557052809
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
758_GLY SER ClinVar
chr19:42479781
rs557052809
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
759_ARG HIS ClinVar
chr19:42474691
rs606231435
Pathogenic/Likely pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; not provided [MedGen:CN517202]
759_ARG CYS ClinVar
chr19:42474692
rs1064797245
Pathogenic/Likely pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; not provided [MedGen:CN517202]
760_LEU PRO ClinVar
chr1:160105635
rs28933398
Pathogenic - Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
760_LEU PRO ClinVar
chr19:42474688
rs606231436
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
761_ILE SER ClinVar
chr19:42474685
rs80356535
Pathogenic - Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
774_THR ASN ClinVar
chr19:42474646
rs557939077
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
775_SER ARG ClinVar
chr19:42474642
rs534926223
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
775_SER ASN ClinVar
chr19:42474643
rs1064795234
Likely pathogenic - not provided [MedGen:CN517202]
776_ASN ILE ClinVar
chr19:42474640
rs606231437
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
776_ASN SER ClinVar
chr19:42474640
rs606231437
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
778_PRO THR ClinVar
chr19:42474635
rs1555859593
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
779_GLU ASP ClinVar
chr19:42474630
rs1085307992
Likely pathogenic - not provided [MedGen:CN517202]
783_PHE LEU ClinVar
chr19:42474620
rs80356536
Pathogenic - Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
790_ASN SER 4.7kJPN
chr1:160105725
rs1207066234
- 0.0001 -
804_ASP TYR ClinVar
chr19:42474557
rs80356537
Pathogenic - Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
804_ASP ASN ClinVar
chr19:42474557
rs80356537
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss [MedGen:C1832466,OMIM:601338,Orphanet:ORPHA1171]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; not provided [MedGen:CN517202]
804_ASP HIS ClinVar
chr19:42474557
rs80356537
Likely pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
804_ASP ALA ClinVar
chr1:116941690
rs1553192783
Pathogenic - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD [MedGen:CN248781,OMIM:618036]
806_GLY ASP ClinVar
chr19:42474550
rs1555859571
Pathogenic - Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
807_THR ILE ClinVar
chr19:42474547
rs606231438
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
808_ASP GLU ClinVar
chr19:42474543
rs606231439
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
808_ASP HIS ClinVar
chr1:160105778
-
Likely pathogenic - Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]
809_MET ARG ClinVar
chr19:42474541
rs549006436
Likely pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
813_ILE SER ClinVar
chr19:42474450
rs536681257
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
813_ILE PHE ClinVar
chr19:42474451
rs606231440
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
814_SER PRO ClinVar
chr19:42474448
rs387907282
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
818_GLU LYS ClinVar
chr19:42474436
rs387907281
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; Global developmental delay [Human Phenotype Ontology:HP:0001263,MedGen:C0557874]; Hemiplegia [Human Phenotype Ontology:HP:0002301,MedGen:C0018991]; Oculogyric crisis [Human Phenotype Ontology:HP:0010553,MedGen:C0085637]; not provided [MedGen:CN517202]
819_GLN GLU 4.7kJPN
chr1:116942069
-
- 0.0001 -
819_GLN PRO 4.7kJPN
chr1:116942070
-
- 0.0001 -
830_ARG TER ClinVar
chr1:160106097
rs755310507
Pathogenic - not provided [MedGen:CN517202]
833_ARG GLN 4.7kJPN
chr19:42474390
rs368371895
- 0.0001 -
851_GLY GLU ClinVar
chr1:160106360
rs149144720
Likely pathogenic - Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]
851_GLY ARG ClinVar
chr1:160106160
rs1553245857
Pathogenic - Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]; not provided [MedGen:CN517202]
851_GLY ARG 4.7kJPN
chr1:160106160
rs1553245857
- 0.0001 -
870_GLY ASP ClinVar
chr19:42473675
rs606231442
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
874_GLY SER 4.7kJPN
chr19:42473664
rs554237072
- 0.0001 -
875_ARG TRP 4.7kJPN
chr1:160106431
rs753568745
- 0.0001 -
883_TRP ARG ClinVar
chr1:160106455
rs28933399
Pathogenic - Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
896_GLY ARG ClinVar
chr1:160106494
rs1553245908
Likely pathogenic - not provided [MedGen:CN517202]
896_GLY ARG ClinVar
chr19:42473598
-
Likely pathogenic - Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
904_ARG SER 4.7kJPN
chr19:42473053
-
- 0.0001 -
906_VAL MET 4.7kJPN
chr19:42473049
-
- 0.0001 -
910_THR MET 4.7kJPN
chr1:160106722
rs1205366030
- 0.0001 -
914_ALA SER 4.7kJPN
chr1:116943794
-
- 0.0001 -
917_VAL ILE 4.7kJPN
chr1:116943803
rs1479883375
- 0.0001 -
921_VAL MET 4.7kJPN
chr1:160106754
-
- 0.0001 -
926_ASP ASN ClinVar
chr19:42472989
rs267606670
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
926_ASP TYR ClinVar
chr19:42472989
rs267606670
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; not provided [MedGen:CN517202]
927_LEU PRO ClinVar
chr19:42472985
rs1555859157
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
928_ILE VAL 4.7kJPN
chr1:160106775
-
- 0.0001 -
929_ILE VAL 4.7kJPN
chr1:160106778
-
- 0.0001 -
930_CYS TRP ClinVar
chr19:42472975
rs606231445
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
930_CYS PHE ClinVar
chr19:42472976
rs606231444
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
930_CYS TYR ClinVar
chr19:42472976
rs606231444
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
933_ARG HIS ClinVar
chr1:160106791
rs1553245943
Likely pathogenic - Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
933_ARG SER 4.7kJPN
chr1:160106790
-
- 0.0001 -
934_ARG SER 4.7kJPN
chr1:160106793
-
- 0.0001 -
939_GLN TER ClinVar
chr19:42472950
rs1555859144
Pathogenic - not provided [MedGen:CN517202]
943_LYS ARG 4.7kJPN
chr1:116943882
-
- 0.0001 -
950_GLY ARG ClinVar
chr19:42471896
rs398122887
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; Epilepsy [MeSH:D004827,MedGen:C0014544,Orphanet:ORPHA166463]; Hemiplegia [Human Phenotype Ontology:HP:0002301,MedGen:C0018991]; not provided [MedGen:CN517202]
950_GLY ARG ClinVar
chr19:42471896
rs398122887
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
950_GLY GLU ClinVar
chr19:42471895
rs886041431
Pathogenic - not provided [MedGen:CN517202]
953_GLU TER ClinVar
chr1:160109458
-
Pathogenic - Polymicrogyria [Human Phenotype Ontology:HP:0002126,MedGen:C0266464,Orphanet:ORPHA35981]
955_THR MET ClinVar
chr1:160109465
rs1226796744
Likely pathogenic - Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]
958_ALA ASP ClinVar
chr19:42471871
rs606231446
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
958_ALA SER 4.7kJPN
chr1:160109473
-
- 0.0001 -
975_PRO LEU ClinVar
chr1:160109525
rs121918615
Likely pathogenic - Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]; Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
995_ASP TYR ClinVar
chr19:42471440
rs606231447
Pathogenic - Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
998_ARG GLN ClinVar
chr1:160109745
-
Likely pathogenic - not provided [MedGen:CN517202]
1004_ARG GLN 4.7kJPN
chr1:160109763
rs781023681
- 0.0012 -
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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

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.