| 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 |
P05230
|
| 3 |
Q99584
|
| 4 |
P21579
|
| 5 |
8C5H
|
| 6 |
P05230
Q99584
Q99584
|
|
Only interaction residues |
|
||||||||
|
|
| 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 | - | - |