Results for the protein: Q9HD40

Results for the Protein: Q9HD40

62287911

51091

SEPSECS

NCBI, UniProt

SPCS_HUMAN RecName: Full=O-phosphoseryl-tRNA(Sec) selenium transferase; AltName: Full=Liver-pancreas antigen; Short=LP; AltName: Full=SLA-p35; AltName: Full=SLA/LP autoantigen; AltName: Full=Selenocysteine synthase; Short=Sec synthase; AltName: Full=Selenocysteinyl-tRNA(Sec) synthase; AltName: Full=Sep-tRNA:Sec-tRNA synthase; Short=SepSecS; AltName: Full=Soluble liver antigen; Short=SLA; AltName: Full=UGA suppressor tRNA-associated protein; AltName: Full=tRNA(Ser/Sec)-associated antigenic protein

Known Diseases associated with this Protein:
PONTOCEREBELLAR HYPOPLASIA 2D (PCH2D)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D

4

2

2

2

2

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Default View: GadB - COG0076 SLA_LP_auto_ag - pfam05889	Swiss-Prot Protein: Q9HD40 Identical to: NP_058651 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SLA_LP_auto_ag	pfam05889	3e-292	61	459

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065585	Disease	p.ALA239THR	Pontocerebellar hypoplasia 2D (PCH2D)
dbSNP	rs115959591	Polymorphism	p.ARG465GLN	N/A
dbSNP	rs2302566	Polymorphism	p.LYS452ASN	N/A
Swiss-Prot	VAR_065586	Disease	p.TYR334CYS	Pontocerebellar hypoplasia 2D (PCH2D)
OMIM	613009.0002	Disease	p.ALA239THR	PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
OMIM	613009.0001	Disease	p.TYR334CYS	PONTOCEREBELLAR HYPOPLASIA, TYPE 2D

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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