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 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2R83 (CHAIN: A) | |
1 |
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2 |
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3 |
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4 |
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5 |
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6 |
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Only interaction residues |
|
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
162_VAL | ILE |
8.3kJPN chr1:202571661 |
rs149665021
|
- | 0.0001 | - | |
167_GLU | LYS |
8.3kJPN chr12:79689876 |
rs1450554643
|
- | 0.0001 | - | |
198_HIS | ARG |
8.3kJPN chr1:202571552 |
rs1402391039
|
- | 0.0001 | - | |
218_GLU | LYS |
8.3kJPN chr1:202571173 |
-
|
- | 0.0001 | - | |
225_VAL | MET |
8.3kJPN chr12:79693197 |
-
|
- | 0.0001 | - | |
249_THR | ILE |
8.3kJPN chr1:202571079 |
-
|
- | 0.0001 | - | |
259_TRP | TER |
8.3kJPN chr1:202571048 |
-
|
- | 0.0001 | - | |
291_VAL | LEU |
8.3kJPN chr1:202569539 |
-
|
- | 0.0001 | - | |
292_CYS | TER |
8.3kJPN 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 |
8.3kJPN 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] | |
331_LYS | ARG |
gnomAD chr1:202568413 |
rs563864431
|
- | 0.000206729 | - | |
361_VAL | MET |
8.3kJPN chr1:202566070 |
-
|
- | 0.0001 | - | |
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] | |
388_ARG | GLN |
8.3kJPN chr1:202565988 |
rs1399437693
|
- | 0.0002 | - | |
392_ASP | GLY |
8.3kJPN chr1:202565976 |
-
|
- | 0.0001 | - |