Results for the protein: Q6PRD1

Results for the Protein: Q6PRD1

85540945

440435

GPR179

NCBI, UniProt

GP179_HUMAN RecName: Full=Probable G-protein coupled receptor 179; AltName: Full=Probable G-protein coupled receptor 158-like 1; Short=GPR158-like; Flags: Precursor

Known Diseases associated with this Protein:
NIGHT BLINDNESS, CONGENITAL STATIONARY, 1E (CSNB1E)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E

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Default View: 7tm_3 - pfam00003	Swiss-Prot Protein: Q6PRD1 Identical to: NP_001004334 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	rs4550493	Polymorphism	p.ARG493HIS	N/A
dbSNP	rs72832277	Polymorphism	p.ARG884TRP	N/A
Swiss-Prot	VAR_067925	Disease	p.ASP126HIS	Night blindness, congenital stationary, 1E (CSNB1E)
dbSNP	rs4398144	Polymorphism	p.CYS1381ARG	N/A
Swiss-Prot	VAR_049287	Polymorphism	p.GLN1176GLU	N/A
dbSNP	rs4399578	Polymorphism	p.GLN1869GLU	N/A
Swiss-Prot	VAR_067927	Disease	p.GLY455ASP	Night blindness, congenital stationary, 1E (CSNB1E)
Swiss-Prot	VAR_067928	Disease	p.HIS603TYR	Night blindness, congenital stationary, 1E (CSNB1E)
dbSNP	rs55727040	Polymorphism	p.LYS1150GLU	N/A
Swiss-Prot	VAR_067926	Disease	p.TYR220CYS	Night blindness, congenital stationary, 1E (CSNB1E)
OMIM	614515.0003	Disease	p.ARG200TER	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
OMIM	614515.0001	Disease	p.HIS603TYR	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
OMIM	614515.0007	Disease	p.TYR220CYS	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E

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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