Results for the protein: P37287

Results for the Protein: P37287

585696

5277

PIGA

NCBI, UniProt

PIGA_HUMAN RecName: Full=Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; AltName: Full=GlcNAc-PI synthesis protein; AltName: Full=Phosphatidylinositol-glycan biosynthesis class A protein; Short=PIG-A

Known Diseases associated with this Protein:
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 (PNH1)

10

1

1

1

9

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: PIGA - pfam08288	Swiss-Prot Protein: P37287 Identical to: NP_002632 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_015442	Disease	p.ARG19TRP	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-Prot	VAR_005532	Disease	p.ASN297ASP	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-Prot	VAR_015436	Disease	p.ASP40HIS	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-Prot	VAR_015437	Disease	p.GLY48ALA	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-Prot	VAR_015441	Disease	p.GLY239ARG	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-Prot	VAR_015438	Disease	p.GLY48ASP	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-Prot	VAR_015439	Disease	p.GLY48VAL	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-Prot	VAR_015440	Disease	p.HIS128ARG	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-Prot	VAR_005531	Disease	p.SER155PHE	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)
dbSNP	rs61730287	Polymorphism	p.TYR236SER	N/A
OMIM	311770.0011	Disease	p.ARG412TER	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258