PiSITE

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

Binding state	Binding partners
	1HVV (CHAIN: A)
1	P32851 P32851 P32851
2	P32851 P60881 P60881
3	P60881 P60881 P63045
4	1URQ 1URQ 1URQ
5	P60880 P60880 P63045 P21579
6	P60880 P60880 P63027 O14810
7	P60881 P60881 P63045 P21707 P21707
8	P60881 P60881 P63045 P21707 P63041

Downdload

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)	AlphaMissense pathogenicity	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