Results for the protein: P00491

Results for the Protein: P00491

108935929

4860

PNP

NCBI, UniProt

PNPH_HUMAN RecName: Full=Purine nucleoside phosphorylase; Short=PNP; AltName: Full=Inosine phosphorylase; AltName: Full=Inosine-guanosine phosphorylase

Known Diseases associated with this Protein:
NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (PNPD)

12

1

7

1

5

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Default View: Pnp - COG0005 PNP_UDP_1 - pfam01048	Swiss-Prot Protein: P00491 Identical to: NP_000261 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PNP_UDP_1	pfam01048	4.6e-70	26	280

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_002246	Disease	p.ALA174PRO	Purine nucleoside phosphorylase deficiency (PNPD)
Swiss-Prot	VAR_002247	Disease	p.ARG234PRO	Purine nucleoside phosphorylase deficiency (PNPD)
Swiss-Prot	VAR_002245	Disease	p.ASP128GLY	Purine nucleoside phosphorylase deficiency (PNPD)
Swiss-Prot	VAR_002244	Disease	p.GLU89LYS	Purine nucleoside phosphorylase deficiency (PNPD)
dbSNP	rs1049564	Polymorphism	p.GLY51SER	N/A
Swiss-Prot	VAR_010653	Disease	p.TYR192CYS	Purine nucleoside phosphorylase deficiency (PNPD)
OMIM	164050.0002	Disease	p.ALA174PRO	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
OMIM	164050.0004	Disease	p.ARG234PRO	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
OMIM	164050.0008	Disease	p.ARG24TER	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
OMIM	164050.0009	Disease	p.ARG58TER	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
OMIM	164050.0003	Disease	p.ASP128GLY	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
OMIM	164050.0001	Disease	p.GLU89LYS	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
OMIM	164050.0006	Disease	p.TYR192CYS	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

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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