PDB ID | 1HVV
|
CHAIN | A |
---|---|---|---|
Protein name | SYNTAXIN 1A | ||
Uniprot Accession | P32851 | ||
The number of similar proteins | 21 | ||
The number of binding states | 9 | ||
The number of binding partners | 7 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1HVV (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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7 |
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8 |
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9 |
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Only interaction residues |
|
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
200_SER | GLY |
8.3kJPN chr7:73117255 |
-
|
- | 0.0001 | - | |
217_VAL | GLU |
ClinVar chr16:31004696 |
rs724159974
|
Pathogenic | - | Generalized epilepsy with febrile seizures plus, type 9 [MedGen:C4015395,OMIM:616172] | |
221_MET | ARG |
8.3kJPN chr7:73117191 |
-
|
- | 0.0001 | - | |
221_MET | VAL |
8.3kJPN chr16:31004685 |
rs1567376776
|
- | 0.0001 | - | |
227_GLY | ARG |
ClinVar chr16:31004561 |
rs727502806
|
Pathogenic | - | Generalized epilepsy with febrile seizures plus, type 9 [MedGen:C4015395,OMIM:616172] | |
240_SER | PRO |
ClinVar chr16:31004522 |
rs1555493906
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
246_ARG | TER |
ClinVar chr16:31004504 |
-
|
Pathogenic | - | Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572] |