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Results for the Protein: P37287
585696

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)
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1
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9
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PIGA - pfam08288


Swiss-Prot Protein: P37287
Identical to: NP_002632
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PIGApfam082881.3e-6372161

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_015442Diseasep.ARG19TRPParoxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-ProtVAR_005532Diseasep.ASN297ASPParoxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-ProtVAR_015436Diseasep.ASP40HISParoxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-ProtVAR_015437Diseasep.GLY48ALAParoxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-ProtVAR_015441Diseasep.GLY239ARGParoxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-ProtVAR_015438Diseasep.GLY48ASPParoxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-ProtVAR_015439Diseasep.GLY48VALParoxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-ProtVAR_015440Diseasep.HIS128ARGParoxysmal nocturnal hemoglobinuria 1 (PNH1)
Swiss-ProtVAR_005531Diseasep.SER155PHEParoxysmal nocturnal hemoglobinuria 1 (PNH1)
dbSNPrs61730287 Polymorphismp.TYR236SERN/A
OMIM311770.0011 Diseasep.ARG412TERMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2



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