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) |
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 | - |