PiSITE

PDB ID	3HD7	CHAIN	D
Protein name	Synaptosomal-associated protein 25
Uniprot Accession	P60881
The number of similar proteins	20
The number of binding states	7
The number of binding partners	8

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding state	Binding partners
	3HD7 (CHAIN: D)
1	P60881 P32851 P63045
2	33321098
3	1URQ 1URQ 1URQ
4	P60881 P60881 P60881
5	P60881 P32851 P63045 P21707
6	P60881 P60881 P60881 P47709
7	P60880 P32851 P63045 P63041

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Molecule viewer

Only interaction residues

#binding
partners

	5
	4
	3
	2
	1
	0

Sequence information

1

GSHMARENEM

DENLEQVSGI

IGNLRHMALD

MGNEIDTQNR

QIDRIMEKAD

50

51

SNKTRIDEAN

QRATKMLG

100

Variants

	Residue	AA	Source	dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	Disease name
	166_ASP	TYR	ClinVar chr20:10280004	rs2123159234	Likely pathogenic	-	Early infantile epileptic encephalopathy with suppression bursts [MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934]
	166_ASP	GLY	ClinVar chr20:10280005	rs2123159261	Likely pathogenic	-	Early infantile epileptic encephalopathy with suppression bursts [MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934]
	174_GLN	PRO	ClinVar chr20:10280029	rs2123159524	Likely pathogenic	-	Early infantile epileptic encephalopathy with suppression bursts [MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934]
	174_GLN	TER	ClinVar chr20:10280028	rs2123159470	Likely pathogenic	-	Early infantile epileptic encephalopathy with suppression bursts [MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934]
	177_GLN	TER	ClinVar chr20:10280037	-	Pathogenic	-	Congenital myasthenic syndrome 18 [MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590]
	181_ILE	ASN	ClinVar chr20:10280050	-	Likely pathogenic	-	Congenital myasthenic syndrome 18 [MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590]
	185_ALA	PRO	ClinVar chr20:10286777	rs1600807788	Likely pathogenic	-	Congenital myasthenic syndrome 18 [MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590]
	192_ILE	THR	ClinVar chr20:10286799	rs2123205099	Likely pathogenic	-	Early infantile epileptic encephalopathy with suppression bursts [MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934]
	197_GLN	TER	ClinVar chr20:10286813	rs2064355122	Likely pathogenic	-	Congenital myasthenic syndrome 18\|SNAP25-related early-onset developmental and epileptic encephalopathy\|Early infantile epileptic encephalopathy with suppression bursts\|SNAP25-related disorder [MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590\|\|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934\|]
	198_ARG	PRO	ClinVar chr20:10286817	rs2064355563	Likely pathogenic	-	Congenital myasthenic syndrome 18\|Early infantile epileptic encephalopathy with suppression bursts\|SNAP25 related neurodevelopmental disorder [MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590\|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934\|]
	199_ALA	GLY	ClinVar chr20:10286820	rs2123205311	Pathogenic/Likely pathogenic	-	Early infantile epileptic encephalopathy with suppression bursts\|Intellectual disability, severe [MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934\|Human Phenotype Ontology:HP:0007196,Human Phenotype Ontology:HP:0010864,MedGen:C0036857]
	199_ALA	GLU	ClinVar chr20:10286820	-	Pathogenic	-	Developmental and epileptic encephalopathy, 2 [MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:1934,Orphanet:3451,Orphanet:505652]

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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