PDB ID | 1BYN
|
CHAIN | A |
---|---|---|---|
Protein name | PROTEIN (SYNAPTOTAGMIN I) | ||
Uniprot Accession | P21707 | ||
The number of similar proteins | 18 | ||
The number of binding states | 6 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1BYN (CHAIN: A) | |
1 | Monomeric state |
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) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
158_LEU | ARG |
ClinVar chr12:79689850 rs2138866856 |
Likely pathogenic | - | - | 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 | - | - | |
183_VAL | ALA |
ClinVar chr12:79689925 - |
Likely pathogenic | - | - | 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 | - | - | |
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 | - | - |