PDB ID 1URQ CHAIN B
Protein name SYNTAXIN 1A
PDB 1URQ
The number of similar proteins 21
The number of binding states 9
The number of binding partners 7
Coloring
Unicolor (beige)
The number of binding partners
Group

Downdload
 Format:  
Molecule viewer
#binding
partners
  4
  3
  2
  1
  0
Sequence information
1   GSHSKQALSE   IETRHSEIIK   LENSIRELHD   MFMDMAMLVE   SQGEMIDRIE   50
51   YNVEHAVDYV   ERAVSDTKKA   VKYQS       100
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
217_VAL GLU ClinVar
chr16:31004696
rs724159974 Pathogenic Generalized epilepsy with febrile seizures plus, type 9 [MedGen:C4015395,OMIM:616172]
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]