Results for the protein: Q92781

Results for the Protein: Q92781

2492753

5959

RDH5

NCBI, UniProt

RDH1_HUMAN RecName: Full=11-cis retinol dehydrogenase; Short=11-cis RDH; Short=11-cis RoDH; AltName: Full=9-cis retinol dehydrogenase; Short=9cRDH; Flags: Precursor

Known Diseases associated with this Protein:
FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
RETINITIS PUNCTATA ALBESCENS (RPA)

22

4

7

1

18

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Default View: DltE - COG0300 DltE - COG3967 FabG - COG1028 COG4221 - COG4221 KR - pfam08659 adh_short - pfam00106	Swiss-Prot Protein: Q92781 Identical to: NP_002896, NP_001186700 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FabG	COG1028	2.2e-37	24	279
DltE	COG3967	4.3e-07	24	254
COG4221	COG4221	2.5e-09	26	236
adh_short	pfam00106	1.4e-13	29	194
KR	pfam08659	0.00038	29	202

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_016822	Disease	p.ALA294PRO	Retinitis punctata albescens (RPA)
Swiss-Prot	VAR_052321	Polymorphism	p.ARG21GLN	N/A
Swiss-Prot	VAR_052322	Polymorphism	p.ARG70GLY	N/A
Swiss-Prot	VAR_016820	Disease	p.ARG280HIS	Retinitis punctata albescens (RPA)
Swiss-Prot	VAR_068718	Disease	p.ARG157TRP	Retinitis punctata albescens (RPA)
Swiss-Prot	VAR_068717	Disease	p.ASP128ASN	Retinitis punctata albescens (RPA)
Swiss-Prot	VAR_016819	Disease	p.CYS267TRP	Retinitis punctata albescens (RPA)
Swiss-Prot	VAR_016815	Disease	p.GLY107ARG	Retinitis punctata albescens (RPA)
Swiss-Prot	VAR_016814	Disease	p.GLY35SER	Retinitis punctata albescens (RPA)
Swiss-Prot	VAR_009274	Disease	p.GLY238TRP	Retinitis punctata albescens (RPA)
Swiss-Prot	VAR_009272	Polymorphism	p.ILE33VAL	N/A
Swiss-Prot	VAR_068716	Disease	p.LEU105ILE	Retinitis punctata albescens (RPA)
dbSNP	rs61733969	Polymorphism	p.SER58ASN	N/A
Swiss-Prot	VAR_009273	Disease	p.SER73PHE	Retinitis punctata albescens (RPA)
Swiss-Prot	VAR_016821	Disease	p.TYR281HIS	Retinitis punctata albescens (RPA)
Swiss-Prot	VAR_016818	Disease	p.VAL177GLY	Retinitis punctata albescens (RPA)
Swiss-Prot	VAR_068719	Disease	p.VAL264GLY	Retinitis punctata albescens (RPA)
Swiss-Prot	VAR_016816	Disease	p.VAL132MET	Retinitis punctata albescens (RPA)
Swiss-Prot	VAR_016817	Disease	p.VAL164PHE	Retinitis punctata albescens (RPA)
OMIM	601617.0004	Disease	p.ALA294PRO	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
OMIM	601617.0003	Disease	p.ARG280HIS	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
OMIM	601617.0008	Disease	p.ARG157TRP	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
OMIM	601617.0001	Disease	p.GLY238TRP	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
OMIM	601617.0002	Disease	p.SER73PHE	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
OMIM	601617.0006	Disease	p.TYR281HIS	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
OMIM	601617.0005	Disease	p.VAL177GLY	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE

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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