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 P21707   P32851  
3 P60881   P60881  
4 P63041   P60881   P32851  
5 P60881   P32851   P60881  
6 P21707   P60881   P32851  

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Format:

Molecule viewer

#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
(4.7kJPN)
Disease name
225_VAL MET 4.7kJPN
chr12:79693197
-
- 0.0001 -
259_TRP TER 4.7kJPN
chr1:202571048
-
- 0.0001 -
278_THR ILE 4.7kJPN
chr1:202569577
-
- 0.0001 -
289_LEU PHE 4.7kJPN
chr1:202569545
rs1259248501
- 0.0001 -
291_VAL LEU 4.7kJPN
chr1:202569539
-
- 0.0001 -
292_CYS TER 4.7kJPN
chr1:202569534
-
- 0.0001 -
302_MET LYS ClinVar
chr12:79747379
-
Pathogenic - BAKER-GORDON SYNDROME [MedGen:CN257498,OMIM:618218]; SYT1-associated neurodevelopmental disorder [na]
303_ASP GLY ClinVar
chr12:79747382
-
Pathogenic - BAKER-GORDON SYNDROME [MedGen:CN257498,OMIM:618218]; SYT1-associated neurodevelopmental disorder [na]
304_VAL MET 4.7kJPN
chr1:202569500
rs756234494
- 0.0001 -
309_ASP ALA ClinVar
chr1:202568479
rs587777781
Pathogenic - Myasthenic syndrome, congenital, 7, presynaptic [MedGen:C4015038,OMIM:616040]
310_PRO LEU ClinVar
chr1:202568476
rs587777782
Pathogenic - Myasthenic syndrome, congenital, 7, presynaptic [MedGen:C4015038,OMIM:616040]
361_VAL MET 4.7kJPN
chr1:202566070
-
- 0.0002 -
363_ASP ASN ClinVar
chr12:79842725
rs1555226395
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
365_ASP GLU ClinVar
chr12:79842733
-
Pathogenic - BAKER-GORDON SYNDROME [MedGen:CN257498,OMIM:618218]; SYT1-associated neurodevelopmental disorder [na]
367_ILE THR VAR_072911 rs1135402761
Disease - -
367_ILE THR ClinVar
chr12:79842738
rs1135402761
Pathogenic/Likely pathogenic - BAKER-GORDON SYNDROME [MedGen:CN257498,OMIM:618218]; SYT1-associated neurodevelopmental disorder [na]; not provided [MedGen:CN517202]
370_ASN LYS ClinVar
chr12:79842748
-
Pathogenic - BAKER-GORDON SYNDROME [MedGen:CN257498,OMIM:618218]; SYT1-associated neurodevelopmental disorder [na]
392_ASP GLY 4.7kJPN
chr1:202565976
-
- 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

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