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
Downdload
 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
Disease name
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]
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]
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 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]