Results for the protein: A6NGG8

Results for the Protein: A6NGG8

182702267

388939

C2orf71

NCBI, UniProt

CB071_HUMAN RecName: Full=Uncharacterized protein C2orf71

Known Diseases associated with this Protein:
RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 (RP54)

7

23

3

5

22

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Default View:	Swiss-Prot Protein: A6NGG8 Identical to: NP_001025054 Default View:

Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs77003681	Polymorphism	p.ALA252ASP	N/A
Swiss-Prot	VAR_065278	Polymorphism	p.ALA648PRO	N/A
Swiss-Prot	VAR_065285	Polymorphism	p.ALA1160THR	N/A
Swiss-Prot	VAR_065277	Polymorphism	p.ALA628THR	N/A
Swiss-Prot	VAR_065282	Polymorphism	p.ALA959THR	N/A
Swiss-Prot	VAR_065272	Polymorphism	p.ARG320CYS	N/A
Swiss-Prot	VAR_065286	Polymorphism	p.ARG1177GLN	N/A
Swiss-Prot	VAR_065281	Polymorphism	p.ARG955GLN	N/A
Swiss-Prot	VAR_065270	Polymorphism	p.ARG258ILE	N/A
Swiss-Prot	VAR_065273	Disease	p.ASP372ASN	Retinitis pigmentosa 54 (RP54)
Swiss-Prot	VAR_065279	Polymorphism	p.CYS688TYR	N/A
Swiss-Prot	VAR_065283	Polymorphism	p.GLN1020ARG	N/A
Swiss-Prot	VAR_065267	Polymorphism	p.GLU227LYS	N/A
Swiss-Prot	VAR_065274	Polymorphism	p.GLU378LYS	N/A
Swiss-Prot	VAR_065288	Polymorphism	p.GLY1247SER	N/A
Swiss-Prot	VAR_063395	Disease	p.ILE201PHE	Retinitis pigmentosa 54 (RP54)
Swiss-Prot	VAR_065275	Disease	p.LEU612PRO	Retinitis pigmentosa 54 (RP54)
dbSNP	rs17744093	Polymorphism	p.LEU792VAL	N/A
dbSNP	rs17007544	Polymorphism	p.LYS421ARG	N/A
Swiss-Prot	VAR_042650	Polymorphism	p.PRO1254LEU	N/A
Swiss-Prot	VAR_063396	Polymorphism	p.PRO867LEU	N/A
Swiss-Prot	VAR_065280	Polymorphism	p.PRO954SER	N/A
Swiss-Prot	VAR_065271	Polymorphism	p.SER312ASN	N/A
dbSNP	rs10084168	Polymorphism	p.SER13CYS	N/A
dbSNP	rs10166913	Polymorphism	p.THR580MET	N/A
Swiss-Prot	VAR_065268	Polymorphism	p.VAL247ALA	N/A
Swiss-Prot	VAR_065276	Disease	p.VAL615ASP	Retinitis pigmentosa 54 (RP54)
OMIM	613425.0004	Disease	p.GLN186TER	RETINITIS PIGMENTOSA 54
OMIM	613425.0002	Disease	p.ILE201PHE	RETINITIS PIGMENTOSA 54
OMIM	613425.0001	Disease	p.TRP253TER	RETINITIS PIGMENTOSA 54

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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