PDB ID 1HVV     CHAIN A
Protein name SYNTAXIN 1A
Uniprot Accession P32851
The number of similar proteins 22
The number of binding states 8
The number of binding partners 7

Coloring

Unicolor (beige)

The number of binding partners

Group

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   QALSEIETRH   SEIIKLENSI   RELHDMFMDM   AMLVESQGEM   IDRIEYNVEH   50
51   AVDYVERAVS   DTKKAVKYQS   KARRK       100

Variants

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 [MONDO:MONDO:0014517,MedGen:C4015395,OMIM:616172,Orphanet:36387]
221_MET ARG 8.3kJPN
chr7:73117191
-
- 0.0001 -
221_MET VAL 8.3kJPN
chr16:31004685
rs1567376776
- 0.0001 -
226_GLN ARG ClinVar
chr7:73117176
rs2116730958
Likely pathogenic - Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]; Seizure [Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572]
227_GLY ARG ClinVar
chr16:31004561
rs727502806
Pathogenic - Generalized epilepsy with febrile seizures plus, type 9 [MONDO:MONDO:0014517,MedGen:C4015395,OMIM:616172,Orphanet:36387]
240_SER PRO ClinVar
chr16:31004522
rs1555493906
Likely pathogenic - not provided [MedGen:CN517202]
240_SER PHE ClinVar
chr16:31004521
rs2143661479
Likely pathogenic - Epileptic encephalopathy [Human Phenotype Ontology:HP:0200134,MedGen:C0543888]
246_ARG TER ClinVar
chr16:31004504
rs780843272
Pathogenic - Generalized epilepsy with febrile seizures plus, type 9|Inborn genetic diseases|not provided [MONDO:MONDO:0014517,MedGen:C4015395,OMIM:616172,Orphanet:36387|MeSH:D030342,MedGen:C0950123|MedGen:C3661900]
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.