PiSITE

PDB ID	2EOB	CHAIN	A
Protein name	1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma 2
Uniprot Accession	P24135
The number of similar proteins	1
The number of binding states	1
The number of binding partners	0

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding state	Binding partners
	2EOB (CHAIN: A)
1	Monomeric state

Downdload

Molecule viewer

Only interaction residues

#binding
partners

Sequence information

GSSGSSGDPV

PNPNPHESKP

WYYDRLSRGE

AEDMLMRIPR

DGAFLIRKRE

GTDSYAITFR

ARGKVKHCRI

NRDGRHFVLG

TSAYFESLVE

LVSYYEKHAL

100

101

YRKMRLRYPV

TPELLERYSG

PSSG

150

Variants

Residue	AA	Source	dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	Disease name
14_ASN	SER	gnomAD chr16:81944307	rs377753289	-	0.000192278	-
14_ASN	LYS	8.3kJPN chr16:81944308	rs1350397879	-	0.0001	-
22_TYR	SER	8.3kJPN chr16:81946207	rs751244429	-	0.0008	-
46_ILE	VAL	gnomAD chr16:81946278	rs150833842	-	0.00545499	-
53_ASP	ASN	gnomAD chr16:81946299	rs541071022	-	0.000305578	-
56_ALA	THR	8.3kJPN chr16:81946308	-	-	0.0001	-
69_ARG	CYS	8.3kJPN chr16:81953114	rs764736362	-	0.0001	-
74_GLY	SER	ClinVar chr16:81953129	rs753618006	Likely pathogenic	-	Familial cold autoinflammatory syndrome 3 [MONDO:MONDO:0013766,MedGen:C3280914,OMIM:614468,Orphanet:300359]
75_ARG	GLN	gnomAD chr16:81953133	rs566611968	-	0.000104205	-
82_SER	TYR	ClinVar chr16:81953154	rs397514562	Pathogenic	-	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation [MONDO:MONDO:0013944,MedGen:C3553961,OMIM:614878,Orphanet:324530]
82_SER	PRO	ClinVar chr16:81953153	rs2143682648	Likely pathogenic	-	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation [MONDO:MONDO:0013944,MedGen:C3553961,OMIM:614878,Orphanet:324530]
83_ALA	PRO	ClinVar chr16:81953156	rs1381167403	Pathogenic	-	Familial cold autoinflammatory syndrome 3 [MONDO:MONDO:0013766,MedGen:C3280914,OMIM:614468,Orphanet:300359]
96_GLU	LYS	gnomAD chr16:81953195	rs187454354	-	0.00780987	-
96_GLU	LYS	8.3kJPN chr16:81953195	rs187454354	-	0.0092	-
110_VAL	MET	8.3kJPN chr16:81953237	rs963117904	-	0.0001	-

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