PDB ID 2R83     CHAIN A
Protein name Synaptotagmin-1
Uniprot Accession P21579
The number of similar proteins 11
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
2R83 (CHAIN: A)
1 P21579  
2 P32851  
3 P60881   P60881  
4 P60881   P32851  
5 P63041   P60881   P32851  
6 P60881   P32851   P60881  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  3
  2
  1
  0

Sequence information

1   GSEKLGKLQY   SLDYDFQNNQ   LLVGIIQAAE   LPALDMGGTS   DPYVKVFLLP   50
51   DKKKKFETKV   HRKTLNPVFN   EQFTFKVPYS   ELAGKTLVMA   VYDFDRFSKH   100
101   DIIGEFKVPM   NTVDFGHVTE   EWRDLQSAEK   EEQEKLGDIC   FSLRYVPTAG   150
151   KLTVVILEAK   NLKKMDVGGL   SDPYVKIHLM   QNGKRLKKKK   TTIKKNTLNP   200
201   YYNESFSFEV   PFEQIQKVQV   VVTVLDYDKI   GKNDAIGKVF   VGYNSTGAEL   250
251   RHWSDMLANP   RRPIAQWHTL   QVEEEVDAML   AVKK     300

Variants

Residue AA Source /
dbSNP		 Clinical
Significance
 Allele
Frequency
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
158_LEU ARG ClinVar
chr12:79689850
rs2138866856
Likely pathogenic - 0.9986 Neurodevelopmental disorder [MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926]
162_VAL ILE 8.3kJPN
chr1:202571661
rs149665021
- 0.0001 - -
167_GLU LYS 8.3kJPN
chr12:79689876
rs1450554643
- 0.0001 0.8559 -
183_VAL ALA ClinVar
chr12:79689925
-
Likely pathogenic - 0.9175 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [MONDO:MONDO:0033864,MedGen:C4748715,OMIM:618218,Orphanet:522077]
198_HIS ARG 8.3kJPN
chr1:202571552
rs1402391039
- 0.0001 0.955 -
218_GLU LYS 8.3kJPN
chr1:202571173
-
- 0.0001 0.9478 -
225_VAL MET 8.3kJPN
chr12:79693197
-
- 0.0001 0.3166 -
249_THR ILE 8.3kJPN
chr1:202571079
-
- 0.0001 0.5198 -
259_TRP TER 8.3kJPN
chr1:202571048
-
- 0.0001 - -
271_GLU TER ClinVar
chr1:202569599
rs2149067131
Pathogenic - - Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive [MONDO:MONDO:0030341,MedGen:C5561947,OMIM:619461]
291_VAL LEU 8.3kJPN
chr1:202569539
-
- 0.0001 0.9092 -
292_CYS TER 8.3kJPN
chr1:202569534
-
- 0.0001 - -
302_MET LYS VAR_081536
-
LP/P - 0.9833 Baker-Gordon syndrome (BAGOS) [MIM:618218]
302_MET LYS ClinVar
chr12:79747379
rs1565922388
Pathogenic/Likely pathogenic - 0.9833 SYT1-associated neurodevelopmental disorder|Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [|MONDO:MONDO:0033864,MedGen:C4748715,OMIM:618218,Orphanet:522077]
303_ASP GLY VAR_081537
-
LP/P - 0.9993 Baker-Gordon syndrome (BAGOS) [MIM:618218]
303_ASP GLY ClinVar
chr12:79747382
rs1565922395
Pathogenic/Likely pathogenic - 0.9993 SYT1-associated neurodevelopmental disorder|Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [|MONDO:MONDO:0033864,MedGen:C4748715,OMIM:618218,Orphanet:522077]
304_VAL MET 8.3kJPN
chr1:202569500
rs756234494
- 0.0001 0.8331 -
306_GLY ASP ClinVar
chr12:79747391
-
Likely pathogenic - 0.9995 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [MONDO:MONDO:0033864,MedGen:C4748715,OMIM:618218,Orphanet:522077]
308_SER PHE ClinVar
chr12:79747397
rs2136007588
Pathogenic/Likely pathogenic - 0.9998 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [MONDO:MONDO:0033864,MedGen:C4748715,OMIM:618218,Orphanet:522077]
308_SER LEU ClinVar
chr1:202569487
rs2149066990
Likely pathogenic - 0.9972 not provided [MedGen:C3661900]
309_ASP ALA ClinVar
chr1:202568479
rs587777781
Pathogenic - 0.998 Congenital myasthenic syndrome 7 [MONDO:MONDO:0014468,MedGen:C4015038,OMIM:616040,Orphanet:590]
309_ASP ASN ClinVar
chr12:79747399
rs2136007608
Likely pathogenic - 0.9943 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [MONDO:MONDO:0033864,MedGen:C4748715,OMIM:618218,Orphanet:522077]
331_LYS ARG gnomAD
chr1:202568413
rs563864431
- 0.000206729 0.512 -
361_VAL MET 8.3kJPN
chr1:202566070
-
- 0.0001 0.9839 -
363_ASP ASN ClinVar
chr12:79842725
rs1555226395
Likely pathogenic - 0.9986 Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
365_ASP GLU VAR_081538
-
LP/P - 0.9991 Baker-Gordon syndrome (BAGOS) [MIM:618218]
365_ASP GLU ClinVar
chr12:79842733
rs1565962725
Pathogenic/Likely pathogenic - 0.9991 SYT1-associated neurodevelopmental disorder|Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [|MONDO:MONDO:0033864,MedGen:C4748715,OMIM:618218,Orphanet:522077]
365_ASP GLU ClinVar
chr12:79842733
rs1565962725
Pathogenic - 0.9991 Syndromic intellectual disability [MONDO:MONDO:0000508,MedGen:C5680525,Orphanet:183763]
367_ILE THR VAR_072911
rs1135402761
LP/P - 0.9262 Baker-Gordon syndrome (BAGOS) [MIM:618218]
367_ILE THR ClinVar
chr12:79842738
rs1135402761
Pathogenic/Likely pathogenic - 0.9262 not provided|SYT1-associated neurodevelopmental disorder|Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome|Inborn genetic diseases [MedGen:C3661900||MONDO:MONDO:0033864,MedGen:C4748715,OMIM:618218,Orphanet:522077|MeSH:D030342,MedGen:C0950123]
367_LEU PRO ClinVar
chr1:202566051
rs2149064005
Pathogenic - - Congenital myasthenic syndrome 7|not provided [MONDO:MONDO:0014468,MedGen:C4015038,OMIM:616040,Orphanet:590|MedGen:C3661900]
370_ASN LYS VAR_081539
-
LP/P - 0.9994 Baker-Gordon syndrome (BAGOS) [MIM:618218]
370_ASN LYS ClinVar
chr12:79842748
rs144900171
Pathogenic/Likely pathogenic - 0.9994 SYT1-associated neurodevelopmental disorder|Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [|MONDO:MONDO:0033864,MedGen:C4748715,OMIM:618218,Orphanet:522077]
373_ILE LYS ClinVar
chr1:202566033
rs1690318147
Pathogenic - 0.9997 Congenital myasthenic syndrome 7 [MONDO:MONDO:0014468,MedGen:C4015038,OMIM:616040,Orphanet:590]
388_ARG GLN 8.3kJPN
chr1:202565988
rs1399437693
- 0.0002 0.7438 -
392_ASP GLY 8.3kJPN
chr1:202565976
-
- 0.0001 0.9977 -
399_ARG TER ClinVar
chr12:79842833
rs1377017458
Pathogenic - - Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [MONDO:MONDO:0033864,MedGen:C4748715,OMIM:618218,Orphanet:522077]
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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.