Results for the protein: P80108

Results for the Protein: P80108

126302583

2822

GPLD1

NCBI, UniProt

PHLD_HUMAN RecName: Full=Phosphatidylinositol-glycan-specific phospholipase D; Short=PI-G PLD; AltName: Full=Glycoprotein phospholipase D; AltName: Full=Glycosyl-phosphatidylinositol-specific phospholipase D; Short=GPI-PLD; Short=GPI-specific phospholipase D; Flags: Precursor

			0 9 0 8 1

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Default View: Int_alpha - smart00191 FG-GAP - pfam01839	Swiss-Prot Protein: P80108 Identical to: NP_001494 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FG-GAP	pfam01839	2.7e-08	450	488
FG-GAP	pfam01839	1.7e-06	513	550
Int_alpha	smart00191	2.5e-13	377	435
Int_alpha	smart00191	2.1e-15	446	503
Int_alpha	smart00191	1.2e-07	509	563

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs116789689	Polymorphism	p.ALA3PRO	N/A
dbSNP	rs17300770	Polymorphism	p.ASP275GLU	N/A
dbSNP	rs6924628	Polymorphism	p.GLY396SER	N/A
Swiss-Prot	VAR_051278	Polymorphism	p.ILE350VAL	N/A
dbSNP	rs2235501	Polymorphism	p.LEU17VAL	N/A
dbSNP	rs1042303	Polymorphism	p.MET694VAL	N/A
dbSNP	rs1772256	Polymorphism	p.THR698ILE	N/A
dbSNP	rs1126617	Polymorphism	p.VAL30ILE	N/A
dbSNP	rs1062505	Polymorphism	p.VAL461MET	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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