Results for the protein: O95427

Results for the Protein: O95427

74706012

23556

PIGN

NCBI, UniProt

PIGN_HUMAN RecName: Full=GPI ethanolamine phosphate transferase 1; AltName: Full=MCD4 homolog; AltName: Full=Phosphatidylinositol-glycan biosynthesis class N protein; Short=PIG-N

Known Diseases associated with this Protein:
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (MCAHS1)

2

6

1

3

4

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Default View: COG1524 - COG1524 PigN - pfam04987	Swiss-Prot Protein: O95427 Identical to: NP_036459, NP_789744 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PigN	pfam04987	6.1e-192	430	884

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_066402	Disease	p.ARG709GLN	Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1)
dbSNP	rs9320001	Polymorphism	p.HIS229ASP	N/A
dbSNP	rs3862712	Polymorphism	p.ILE470LEU	N/A
Swiss-Prot	VAR_053575	Polymorphism	p.LEU469PHE	N/A
dbSNP	rs17069506	Polymorphism	p.LYS162GLU	N/A
Swiss-Prot	VAR_053577	Polymorphism	p.PHE904CYS	N/A
Swiss-Prot	VAR_053578	Polymorphism	p.PHE904LEU	N/A
OMIM	606097.0001	Disease	p.ARG709GLN	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1

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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