PiSITE

PDB ID	3RK2	CHAIN	C
Protein name	Synaptosomal-associated protein 25
Uniprot Accession	P60880
The number of similar proteins	24
The number of binding states	8
The number of binding partners	6

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding state	Binding partners
	3RK2 (CHAIN: C)
1	P60880 P32851 P63027
2	1URQ 1URQ 1URQ
3	P60881 P32851 P32851
4	5LOB P47709 5LOB 5LOB
5	P21707 P60881 P32851 P63045
6	P60881 P47709 P47709 P60881 P60881
7	P21707 P21707 P60881 P32851 P63045
8	P60881 P47709 P47709 P47709 P60881 P60881

Downdload

Molecule viewer

Only interaction residues

#binding
partners

	4
	3
	2
	1
	0

Sequence information

1

GSHMMRNELE

EMQRRADQLA

DESLESTRRM

LQLVEESKDA

GIRTLVMLDE

50

51

QGEQLDRVEE

GMNHINQDMK

EAEKNLKDLG

W

100

Variants

	Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
	25_SER	LEU	ClinVar chr20:10258334 rs2514785213	Likely pathogenic	-	0.9905	Congenital myasthenic syndrome 18\|not provided [MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590\|MedGen:C3661900]
	40_LYS	GLU	ClinVar chr20:10265375 rs2123063802	Likely pathogenic	-	0.9681	Global developmental delay\|Developmental and epileptic encephalopathy [Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874\|MONDO:MONDO:0100620,MedGen:C5779964]
	43_GLY	ARG	ClinVar chr20:10265384 rs2123063830	Pathogenic/Likely pathogenic	-	0.9996	Developmental and epileptic encephalopathy\|SNAP25-related developmental delays and epileptic encephalopathies\|Inborn genetic diseases\|Congenital myasthenic syndrome 18 [MONDO:MONDO:0100620,MedGen:C5779964\|\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590]
	48_VAL	PHE	ClinVar chr20:10265399 rs797044873	Likely pathogenic	-	0.9611	Focal epilepsy [MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547]; Epilepsy with generalized tonic-clonic seizures [MONDO:MONDO:0005754,MeSH:D004830,MedGen:C0014549,Orphanet:698005]; 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]; Unilateral Hypotonia\|not provided\|Developmental and epileptic encephalopathy [MeSH:D009123,MedGen:C0751330\|MedGen:C3661900\|MONDO:MONDO:0100620,MedGen:C5779964]
	50_LEU	SER	ClinVar chr20:10265406 rs2123063984	Likely pathogenic	-	0.9994	Developmental and epileptic encephalopathy [MONDO:MONDO:0100620,MedGen:C5779964]
	57_LEU	ARG	ClinVar chr20:10273815 rs2123120184	Likely pathogenic	-	0.9955	Developmental and epileptic encephalopathy [MONDO:MONDO:0100620,MedGen:C5779964]
	57_LEU	PRO	ClinVar chr20:10273815 rs2123120184	Likely pathogenic	-	0.9993	Congenital myasthenic syndrome 18 [MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590]
	59_ARG	HIS	8.3kJPN chr20:10273821 -	-	0.0001	0.4055	-
	67_ILE	ASN	VAR_073698 rs1555794286	LP/P	-	0.9909	Developmental and epileptic encephalopathy 117 (DEE117) [MIM:616330]
	67_ILE	ASN	ClinVar chr20:10273845 rs1555794286	Pathogenic/Likely pathogenic	-	0.9909	Congenital myasthenic syndrome 18\|Developmental and epileptic encephalopathy\|Inborn genetic diseases [MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590\|MONDO:MONDO:0100620,MedGen:C5779964\|MeSH:D030342,MedGen:C0950123]
	71_MET	THR	ClinVar chr20:10273857 rs2123120544	Pathogenic/Likely pathogenic	-	0.9606	Developmental and epileptic encephalopathy\|Congenital myasthenic syndrome 18\|not provided [MONDO:MONDO:0100620,MedGen:C5779964\|MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590\|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