PDB ID 3SN6     CHAIN B
Protein name Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1
Uniprot Accession P54311
The number of similar proteins 54
The number of binding states 11
The number of binding partners 10

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
3SN6 (CHAIN: B)
1 P63212   P04896   P00720   3SN6  
2 P63212  
3 P59768   P21146  
4 P63212   P63096  
5 P59768   Q8C4T8  
6 P02698   P20942  
7 P02698   6B20  
8 P59768   P63096   6CRK  
9 P04901   P04901   P02698  
10 P62873   P62873   P59768   Q96CX2   Q96CX2  
11 P62873   P62873   P59768   Q96CX2   Q96CX2   Q96CX2  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  8
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   MHHHHHHGSL   LQSELDQLRQ   EAEQLKNQIR   DARKACADAT   LSQITNNIDP   50
51   VGRIQMRTRR   TLRGHLAKIY   AMHWGTDSRL   LVSASQDGKL   IIWDSYTTNK   100
101   VHAIPLRSSW   VMTCAYAPSG   NYVACGGLDN   ICSIYNLKTR   EGNVRVSREL   150
151   AGHTGYLSCC   RFLDDNQIVT   SSGDTTCALW   DIETGQQTTT   FTGHTGDVMS   200
201   LSLAPDTRLF   VSGACDASAK   LWDVREGMCR   QTFTGHESDI   NAICFFPNGN   250
251   AFATGSDDAT   CRLFDLRADQ   ELMTYSHDNI   ICGITSVSFS   KSGRLLLAGY   300
301   DDFNCNVWDA   LKADRAGVLA   GHDNRVSCLG   VTDDGMAVAT   GSWDSFLKIW   350
351   N           400

Variants

Residue AA Source /
dbSNP		 Clinical
Significance
 Allele
Frequency
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
3_GLU LYS 8.3kJPN
chr3:179143982
rs955229785
- 0.0001 - -
8_ARG HIS 8.3kJPN
chr12:6950474
rs199531660
- 0.0004 - -
11_ALA VAL 8.3kJPN
chr12:6950483
rs782550076
- 0.0001 - -
19_ARG GLN 8.3kJPN
chr7:100273944
-
- 0.0001 - -
21_ALA VAL 8.3kJPN
chr7:100274162
-
- 0.0001 - -
22_ARG GLN 8.3kJPN
chr3:179138708
rs1318528118
- 0.0001 - -
24_ALA VAL 8.3kJPN
chr12:6950763
-
- 0.0001 - -
29_THR ALA 8.3kJPN
chr1:1749287
rs758197716
- 0.0001 - -
29_THR MET 8.3kJPN
chr3:179138687
rs762114369
- 0.0002 - -
30_LEU VAL 8.3kJPN
chr12:6950780
rs1429928202
- 0.0001 - -
31_THR SER 8.3kJPN
chr7:100274192
-
- 0.0002 - -
37_ILE MET gnomAD
chr1:1747287
rs754777749
- 0.000151198 - -
43_ILE MET 8.3kJPN
chr3:179137261
rs1187523844
- 0.0002 - -
47_THR MET gnomAD
chr12:6952177
rs116400596
- 0.000141787 - -
47_THR MET 8.3kJPN
chr12:6952177
rs116400596
- 0.0001 - -
49_ARG GLN 8.3kJPN
chr12:6952183
rs782393502
- 0.0001 - -
52_ARG LEU ClinVar
chr7:100274374
rs948934468
Pathogenic - - Sick sinus syndrome 4 [MONDO:MONDO:0859173,MedGen:C5561949,OMIM:619464]
53_GLY ASP ClinVar
chr3:179137232
rs387907340
Likely pathogenic - - Charcot-Marie-Tooth disease dominant intermediate F [MONDO:MONDO:0014074,MedGen:C4749463,OMIM:615185,Orphanet:352670]
53_GLY GLU ClinVar
chr1:1747240
rs1557898800
Likely pathogenic - - Intellectual disability, autosomal dominant 42 [MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973]
55_LEU VAL ClinVar
chr1:1747235
rs2100858599
Pathogenic - - not provided [MedGen:C3661900]
57_LYS GLU ClinVar
chr3:179137221
rs1714910248
Likely pathogenic - - Charcot-Marie-Tooth disease dominant intermediate F|not provided [MONDO:MONDO:0014074,MedGen:C4749463,OMIM:615185,Orphanet:352670|MedGen:C3661900]
57_LYS THR ClinVar
chr1:1747228
rs747183517
Likely pathogenic - - not provided [MedGen:CN517202]
57_LYS GLU 8.3kJPN
chr1:1747229
rs141326438
- 0.0002 - -
59_TYR ASP 8.3kJPN
chr12:6952212
-
- 0.0001 - -
60_ALA THR 8.3kJPN
chr12:6952215
rs782554195
- 0.0001 - -
61_MET ILE ClinVar
chr1:1747215
-
Likely pathogenic - - Intellectual disability, autosomal dominant 42 [MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973]
63_TRP CYS 8.3kJPN
chr7:100274408
-
- 0.0001 - -
66_ASP HIS 8.3kJPN
chr7:100274415
-
- 0.0001 - -
73_ALA THR ClinVar
chr7:100274988
rs1424516740
Pathogenic/Likely pathogenic - - Neurodevelopmental disorder with hypotonia and dysmorphic facies [MONDO:MONDO:0859185,MedGen:C5561974,OMIM:619503]
73_ALA SER ClinVar
chr1:1737964
rs2100726769
Likely pathogenic - - not provided [MedGen:C3661900]
73_ALA THR ClinVar
chr1:1737964
-
Likely pathogenic - - Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome [MONDO:MONDO:0024252,MedGen:C5567482,Orphanet:488613]
76_ASP GLU ClinVar
chr1:1737953
rs869312822
Pathogenic/Likely pathogenic - - 6 conditions|Neurodevelopmental Disability [6 conditions|]; Hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; 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]
76_ASP GLY ClinVar
chr1:1737954
rs869312821
Pathogenic - - Global developmental delay [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]; Infantile muscular hypotonia [Human Phenotype Ontology:HP:0002449,Human Phenotype Ontology:HP:0002523,Human Phenotype Ontology:HP:0008947,Human Phenotype Ontology:HP:0010572,MedGen:C1860834]; Hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; Intellectual disability|Acute lymphoid leukemia|Intellectual disability, autosomal dominant 42|Hypotonia [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|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973|Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; 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]; Neurodevelopmental Disability|not provided [|MedGen:C3661900]
76_ASP GLY ClinVar
chr3:179134321
rs1714805406
Likely pathogenic - - Charcot-Marie-Tooth disease dominant intermediate F [MONDO:MONDO:0014074,MedGen:C4749463,OMIM:615185,Orphanet:352670]
76_ASP ASN ClinVar
chr1:1737955
rs1646697327
Pathogenic/Likely pathogenic - - Intellectual disability, autosomal dominant 42|not provided [MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973|MedGen:C3661900]
76_ASP GLU ClinVar
chr1:1737953
rs869312822
Pathogenic - - Intellectual disability, autosomal dominant 42 [MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973]
76_ASP TYR 8.3kJPN
chr12:6952360
rs2234756
- 0.0094 - -
77_GLY SER ClinVar
chr1:1737952
rs758432471
Pathogenic/Likely pathogenic - - Inborn genetic diseases|Seizure [MeSH:D030342,MedGen:C0950123|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]; Hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; Neurodevelopmental Disability|Autism spectrum disorder|not provided|Hypotonia [|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106|MedGen:C3661900|Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; Global developmental delay|Intellectual disability, autosomal dominant 42 [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|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973]
77_GLY ARG ClinVar
chr3:179134319
rs1553851490
Pathogenic/Likely pathogenic - - Charcot-Marie-Tooth disease dominant intermediate F [MONDO:MONDO:0014074,MedGen:C4749463,OMIM:615185,Orphanet:352670]
77_GLY ASP ClinVar
chr1:1737951
rs1135401746
Pathogenic/Likely pathogenic - - Inborn genetic diseases|Intellectual disability|not provided|Intellectual disability, autosomal dominant 42 [MeSH:D030342,MedGen:C0950123|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|MedGen:CN517202|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973]
77_GLY TRP ClinVar
chr7:100275000
rs1804373189
Likely pathogenic - - Global developmental delay|Neurodevelopmental disorder with hypotonia and dysmorphic facies [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|MONDO:MONDO:0859185,MedGen:C5561974,OMIM:619503]
77_GLY VAL ClinVar
chr1:1737951
rs1135401746
Pathogenic - - Intellectual disability, autosomal dominant 42|not provided [MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973|MedGen:C3661900]
77_GLY CYS ClinVar
chr1:1737952
rs758432471
Pathogenic - - Neurodevelopmental delay [Human Phenotype Ontology:HP:0012758,MedGen:C4022738]
78_LYS ARG ClinVar
chr1:1737948
rs869312823
Pathogenic/Likely pathogenic - - 8 conditions|Intellectual disability, autosomal dominant 42|not provided|Hypotonia [8 conditions|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973|MedGen:C3661900|Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; 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]; Neurodevelopmental Disability|Inborn genetic diseases|GNB1-Related Disorder|Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome [|MeSH:D030342,MedGen:C0950123||MONDO:MONDO:0024252,MedGen:C5567482,Orphanet:488613]
80_ILE THR ClinVar
chr1:1737942
rs752746786
Pathogenic/Likely pathogenic - - Inborn genetic diseases|Myelodysplastic syndrome|7 conditions|13 conditions|Intellectual disability, autosomal dominant 42|not provided|Neurodevelopmental Disability [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|7 conditions|13 conditions|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973|MedGen:C3661900|]; Hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; Seizure|LEUKEMIA, CHRONIC LYMPHOCYTIC, SOMATIC|Neurodevelopmental disorder|Global developmental delay|Neurodevelopmental abnormality|Intellectual disability|Neurodevelopmental delay|Cerebral palsy [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:0700092,MeSH:D065886,MedGen:C1535926|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|Human Phenotype Ontology:HP:0012759,MedGen:C4022737|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|Human Phenotype Ontology:HP:0012758,MedGen:C4022738|Human Phenotype Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789]
80_ILE ASN ClinVar
chr1:1737942
rs752746786
Pathogenic - - 11 conditions|Acute lymphoid leukemia|Intellectual disability, autosomal dominant 42|Hypotonia [11 conditions|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973|Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; 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]; Neurodevelopmental Disability|not provided [|MedGen:C3661900]
80_ILE SER ClinVar
chr1:1737942
rs752746786
Pathogenic/Likely pathogenic - - not provided|Intellectual disability, autosomal dominant 42 [MedGen:CN517202|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973]
81_VAL MET 8.3kJPN
chr12:6952375
rs45616032
- 0.0001 - -
87_THR ALA gnomAD
chr3:179134289
rs780046027
- 0.000244076 - -
89_LYS GLU ClinVar
chr3:179134283
rs387907341
Pathogenic - - Charcot-Marie-Tooth disease dominant intermediate F [MONDO:MONDO:0014074,MedGen:C4749463,OMIM:615185,Orphanet:352670]
89_LYS ARG ClinVar
chr1:1737915
rs1064795844
Likely pathogenic - - not provided [MedGen:CN517202]
89_LYS GLU ClinVar
chr7:100275036
rs2131350514
Pathogenic - - Neurodevelopmental disorder with hypotonia and dysmorphic facies [MONDO:MONDO:0859185,MedGen:C5561974,OMIM:619503]
89_LYS THR ClinVar
chr7:100275037
rs2131350517
Pathogenic - - Neurodevelopmental disorder with hypotonia and dysmorphic facies [MONDO:MONDO:0859185,MedGen:C5561974,OMIM:619503]
92_ALA THR ClinVar
chr1:1736014
rs1557889974
Pathogenic/Likely pathogenic - - not provided|Intellectual disability|Intellectual disability, autosomal dominant 42 [MedGen:C3661900|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:0014855,MedGen:C4310774,OMIM:616973]
94_PRO LEU 8.3kJPN
chr12:6952540
rs999189577
- 0.0001 - -
95_LEU PRO ClinVar
chr1:1736004
rs869312824
Pathogenic/Likely pathogenic - - 14 conditions|Hypotonia [14 conditions|Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; 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]; Neurodevelopmental Disability|Microcephaly|Intellectual disability, autosomal dominant 42|not provided|Hypotonia [|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973|MedGen:C3661900|Human Phenotype Ontology:HP:0001252,MedGen:C0026827]
95_LEU PRO ClinVar
chr7:100275137
-
Likely pathogenic - - Neurodevelopmental disorder with hypotonia and dysmorphic facies [MONDO:MONDO:0859185,MedGen:C5561974,OMIM:619503]
96_ARG LEU ClinVar
chr1:1736001
rs1646670990
Pathogenic - - Intellectual disability, autosomal dominant 42 [MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973]
96_ARG CYS ClinVar
chr1:1736002
rs2100699787
Likely pathogenic - - not provided [MedGen:C3661900]
101_MET VAL ClinVar
chr1:1735987
rs869312825
Pathogenic/Likely pathogenic - - 10 conditions|Intellectual disability, autosomal dominant 42|not provided|Neurodevelopmental Disability [10 conditions|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973|MedGen:CN517202|]; Hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; 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]
106_ALA THR 8.3kJPN
chr7:100275169
-
- 0.0001 - -
107_PRO SER 8.3kJPN
chr3:179132784
-
- 0.0001 - -
108_SER PHE 8.3kJPN
chr3:179132780
-
- 0.0003 - -
109_GLY GLU ClinVar
chr1:1735962
-
Likely pathogenic - - Intellectual disability, autosomal dominant 42 [MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973]
114_CYS TYR ClinVar
chr1:1735947
rs1313820360
Pathogenic - - Intellectual disability, autosomal dominant 42 [MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973]
115_GLY ARG 8.3kJPN
chr12:6952602
rs201963490
- 0.0002 - -
116_GLY VAL ClinVar
chr1:1735941
rs1646670079
Pathogenic - - not provided [MedGen:C3661900]
118_ASP GLY ClinVar
chr1:1735935
rs1553194162
Pathogenic - - Inborn genetic diseases|not provided|Intellectual disability, autosomal dominant 42 [MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973]
118_ASP TYR ClinVar
chr1:1735936
rs1570640673
Pathogenic - - Atypical behavior [Human Phenotype Ontology:HP:0000708,Human Phenotype Ontology:HP:0000715,Human Phenotype Ontology:HP:0002368,Human Phenotype Ontology:HP:0002456,MedGen:C0233514]; Dystonic disorder|Intellectual disability, autosomal dominant 42|not provided [Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973|MedGen:C3661900]
119_ASN LYS ClinVar
chr7:100275210
-
Pathogenic - - not provided [MedGen:C3661900]
123_ILE VAL 8.3kJPN
chr12:6952626
rs782780703
- 0.0001 - -
125_ASN SER 8.3kJPN
chr1:1735914
rs150628410
- 0.0002 - -
127_LYS ARG 8.3kJPN
chr12:6952639
rs1555123844
- 0.0005 - -
129_ARG HIS 8.3kJPN
chr12:6952645
rs201797921
- 0.0002 - -
130_GLU LYS ClinVar
chr1:1735900
rs1553194155
Pathogenic/Likely pathogenic - - not provided|Intellectual disability, autosomal dominant 42 [MedGen:CN517202|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973]
133_VAL MET 8.3kJPN
chr3:179132706
-
- 0.0001 - -
134_LYS ARG gnomAD
chr12:6952660
rs61747607
- 0.000560783 - -
143_THR ILE 8.3kJPN
chr3:179132675
-
- 0.0001 - -
166_CYS ARG ClinVar
chr1:1724685
rs2100546091
Likely pathogenic - - Intellectual disability, autosomal dominant 42 [MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973]
175_GLN HIS 8.3kJPN
chr7:100275748
rs1187109793
- 0.0002 - -
177_THR ASN 8.3kJPN
chr3:179131369
rs1274879698
- 0.0003 - -
178_THR ILE 8.3kJPN
chr12:6952976
-
- 0.0001 - -
187_VAL ALA 8.3kJPN
chr7:100275783
-
- 0.0001 - -
195_ASP ASN gnomAD
chr7:100275806
rs79631023
- 0.000751575 - -
200_VAL LEU 8.3kJPN
chr7:100275821
-
- 0.0001 - -
208_ILE VAL 8.3kJPN
chr7:100275845
rs752126417
- 0.0003 - -
214_ARG TER ClinVar
chr1:1721893
rs1002519501
Pathogenic - - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
214_ARG TER 8.3kJPN
chr12:6953083
rs367934996
- 0.0001 - -
219_ARG CYS 8.3kJPN
chr12:6953098
rs782266619
- 0.0002 - -
220_GLN ARG ClinVar
chr3:179131240
rs199615251
Likely pathogenic - - Charcot-Marie-Tooth disease dominant intermediate F [MONDO:MONDO:0014074,MedGen:C4749463,OMIM:615185,Orphanet:352670]
220_GLN ARG 8.3kJPN
chr3:179131240
rs199615251
- 0.0001 - -
223_THR MET gnomAD
chr3:179131231
rs144385061
- 0.000131316 - -
226_GLU GLN gnomAD
chr12:6953119
rs371744474
- 0.000333483 - -
226_GLU LYS 8.3kJPN
chr1:1721857
-
- 0.0001 - -
239_ASN SER 8.3kJPN
chr1:1720692
rs760166038
- 0.0001 - -
240_ALA THR 8.3kJPN
chr7:100276039
-
- 0.0001 - -
245_SER LEU 8.3kJPN
chr12:6954784
rs782597916
- 0.0004 - -
251_ARG HIS 8.3kJPN
chr12:6954802
rs782467023
- 0.0001 - -
256_ARG GLN 8.3kJPN
chr12:6954817
rs781879948
- 0.0001 - -
267_GLU LYS gnomAD
chr12:6954849
rs150593798
- 0.000139228 - -
267_ASP ASN 8.3kJPN
chr3:179123095
rs752762550
- 0.0001 - -
268_ASN SER 8.3kJPN
chr1:1720605
rs757342463
- 0.0002 - -
268_ASN ILE 8.3kJPN
chr7:100276124
rs147810006
- 0.0001 - -
268_SER ARG 8.3kJPN
chr12:6954854
-
- 0.0003 - -
271_CYS TYR 8.3kJPN
chr3:179123082
-
- 0.0001 - -
272_GLY ARG ClinVar
chr1:1720594
-
Likely pathogenic - - Intellectual disability, autosomal dominant 42 [MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973]; Myelodysplastic syndrome [MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688]; Acute lymphoid leukemia [Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513]
272_GLY SER gnomAD
chr12:6954864
rs5442
- 0.0484364 - -
287_ALA SER 8.3kJPN
chr12:6954909
rs782090563
- 0.0001 - -
289_TYR CYS 8.3kJPN
chr3:179123028
-
- 0.0001 - -
294_CYS ARG 8.3kJPN
chr3:179123014
-
- 0.0001 - -
299_ALA VAL 8.3kJPN
chr1:1720512
-
- 0.0001 - -
304_ARG CYS 8.3kJPN
chr3:179122984
rs201776673
- 0.0001 - -
309_ALA THR 8.3kJPN
chr7:100276326
rs1554371972
- 0.0001 - -
313_ASN SER 8.3kJPN
chr3:179119086
-
- 0.0001 - -
320_VAL ILE gnomAD
chr3:179119066
rs61750380
- 0.00419188 - -
326_ALA THR ClinVar
chr1:1718817
rs869312826
Likely pathogenic - - Intellectual disability [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]; Global developmental delay [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]; Bilateral tonic-clonic seizure [Human Phenotype Ontology:HP:0001306,Human Phenotype Ontology:HP:0002069,Human Phenotype Ontology:HP:0002407,Human Phenotype Ontology:HP:0007252,MedGen:C0494475]; Hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; Seizure|Neurodevelopmental Disability [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|]; Hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; Seizure|Intellectual disability, autosomal dominant 42 [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:0014855,MedGen:C4310774,OMIM:616973]
330_GLY ASP 8.3kJPN
chr12:6956028
-
- 0.0001 - -
339_TRP TER ClinVar
chr12:6956056
rs879253773
Pathogenic - - Congenital stationary night blindness 1H [MONDO:MONDO:0014872,MedGen:C4310758,OMIM:617024]
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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.