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

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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)	Disease name
	25_SER	LEU	ClinVar chr20:10258334	-	Likely pathogenic	-	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	-	Global developmental delay\|Early infantile epileptic encephalopathy with suppression bursts [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:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934]
	43_GLY	ARG	ClinVar chr20:10265384	rs2123063830	Likely pathogenic	-	Early infantile epileptic encephalopathy with suppression bursts [MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934]
	48_VAL	PHE	ClinVar chr20:10265399	rs797044873	Likely pathogenic	-	Unilateral Hypotonia [MeSH:D009123,MedGen:C0751330]; 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]; Epilepsy with generalized tonic-clonic seizures [MONDO:MONDO:0005754,MeSH:D004830,MedGen:C0014549]; Focal epilepsy\|not provided\|Early infantile epileptic encephalopathy with suppression bursts [MONDO:MONDO:0005384,MeSH:D004828,MedGen:C0014547\|MedGen:CN517202\|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934]
	50_LEU	SER	ClinVar chr20:10265406	rs2123063984	Likely pathogenic	-	Early infantile epileptic encephalopathy with suppression bursts [MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934]
	57_LEU	ARG	ClinVar chr20:10273815	rs2123120184	Likely pathogenic	-	Early infantile epileptic encephalopathy with suppression bursts [MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934]
	57_LEU	PRO	ClinVar chr20:10273815	rs2123120184	Likely pathogenic	-	Congenital myasthenic syndrome 18 [MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590]
	59_ARG	HIS	8.3kJPN chr20:10273821	-	-	0.0001	-
	66_GLN	PRO	ClinVar chr20:10273842	rs2064035939	Likely pathogenic	-	Early infantile epileptic encephalopathy with suppression bursts [MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934]
	67_ILE	ASN	VAR_073698	rs1555794286	LP/P	-	Myasthenic syndrome, congenital, 18 (CMS18) [MIM:616330]
	67_ILE	ASN	ClinVar chr20:10273845	rs1555794286	Pathogenic	-	Congenital myasthenic syndrome 18\|Early infantile epileptic encephalopathy with suppression bursts [MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590\|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934]
	71_MET	THR	ClinVar chr20:10273857	rs2123120544	Likely pathogenic	-	Early infantile epileptic encephalopathy with suppression bursts [MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934]

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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