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Results for the Protein: Q969N2
44888284

PIGT_HUMAN RecName: Full=GPI transamidase component PIG-T; AltName: Full=Phosphatidylinositol-glycan biosynthesis class T protein; Flags: Precursor

Known Diseases associated with this Protein:
  MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (1 FAMILY)
  MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (MCAHS3)
2
1
1
0
2
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Gpi16 - pfam04113


Swiss-Prot Protein: Q969N2
Identical to: NP_057021
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Gpi16pfam041137e-1377576

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_053583Polymorphismp.ALA473THRN/A
Swiss-ProtVAR_070448Diseasep.THR183PROMultiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3)
OMIM610272.0001 Diseasep.THR183PROMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (1 family)



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