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Results for the Protein: Q96NR8
116242750

RDH12_HUMAN RecName: Full=Retinol dehydrogenase 12; AltName: Full=All-trans and 9-cis retinol dehydrogenase

Known Diseases associated with this Protein:
  LEBER CONGENITAL AMAUROSIS 13
  LEBER CONGENITAL AMAUROSIS 13 (LCA13)
  RETINITIS PIGMENTOSA 53
  RETINITIS PIGMENTOSA 53 (RP53)
23
17
13
1
26
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Default View:

COG4221 - COG4221
DltE - COG0300
FabG - COG1028
DltE - COG3967
adh_short - pfam00106
KR - pfam08659


Swiss-Prot Protein: Q96NR8
Identical to: NP_689656
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FabGCOG10283.3e-4235311
COG4221COG42218.4e-0932297
DltECOG39677.1e-0735305
adh_shortpfam001062e-0740219
KRpfam086590.00141206

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064173Polymorphismp.ALA206ASPN/A
Swiss-ProtVAR_064163Polymorphismp.ALA47THRN/A
Swiss-ProtVAR_064169Diseasep.ALA126VALRetinitis pigmentosa 53 (RP53)
Swiss-ProtVAR_064174Polymorphismp.ALA206VALN/A
Swiss-ProtVAR_067193Polymorphismp.ALA79VALN/A
Swiss-ProtVAR_064172Polymorphismp.ARG193CYSN/A
dbSNPrs17852293 Polymorphismp.ARG161GLNN/A
Swiss-ProtVAR_064165Polymorphismp.ARG65GLNN/A
Swiss-ProtVAR_064176Polymorphismp.ARG234HISN/A
Swiss-ProtVAR_064177Polymorphismp.ARG239TRPN/A
Swiss-ProtVAR_064168Polymorphismp.ASN125LYSN/A
Swiss-ProtVAR_064167Polymorphismp.ASP101ASNN/A
Swiss-ProtVAR_064179Polymorphismp.CYS285TYRN/A
Swiss-ProtVAR_064166Diseasep.GLY76ARGRetinitis pigmentosa 53 (RP53)
Swiss-ProtVAR_064170Polymorphismp.GLY145GLUN/A
Swiss-ProtVAR_020862Diseasep.HIS151ASNLeber congenital amaurosis 13 (LCA13)
Swiss-ProtVAR_020861Diseasep.HIS151ASPLeber congenital amaurosis 13 (LCA13)
Swiss-ProtVAR_020859Diseasep.ILE51ASNLeber congenital amaurosis 13 (LCA13)
Swiss-ProtVAR_020860Diseasep.LEU99ILELeber congenital amaurosis 13 (LCA13)
Swiss-ProtVAR_064178Polymorphismp.LEU274PRON/A
Swiss-ProtVAR_020865Diseasep.PRO230ALALeber congenital amaurosis 13 (LCA13)
Swiss-ProtVAR_064175Polymorphismp.PRO230LEUN/A
Swiss-ProtVAR_020863Diseasep.SER175PROLeber congenital amaurosis 13 (LCA13)
Swiss-ProtVAR_064171Polymorphismp.THR155ILEN/A
Swiss-ProtVAR_020858Diseasep.THR49METLeber congenital amaurosis 13 (LCA13)
Swiss-ProtVAR_064164Polymorphismp.THR55METN/A
Swiss-ProtVAR_020864Diseasep.TYR226CYSLeber congenital amaurosis 13 (LCA13)
OMIM608830.0016 Diseasep.ALA126VALRETINITIS PIGMENTOSA 53
OMIM608830.0005 Diseasep.ARG62TERLEBER CONGENITAL AMAUROSIS 13
OMIM608830.0003 Diseasep.GLN189TERLEBER CONGENITAL AMAUROSIS 13
OMIM608830.0006 Diseasep.GLY127TERLEBER CONGENITAL AMAUROSIS 13
OMIM608830.0007 Diseasep.HIS151ASNLEBER CONGENITAL AMAUROSIS 13
OMIM608830.0009 Diseasep.HIS151ASPLEBER CONGENITAL AMAUROSIS 13
OMIM608830.0012 Diseasep.ILE51ASNLEBER CONGENITAL AMAUROSIS 13
OMIM608830.0010 Diseasep.LEU99ILELEBER CONGENITAL AMAUROSIS 13
OMIM608830.0008 Diseasep.PRO230ALALEBER CONGENITAL AMAUROSIS 13
OMIM608830.0011 Diseasep.SER175PROLEBER CONGENITAL AMAUROSIS 13
OMIM608830.0014 Diseasep.THR155ILELEBER CONGENITAL AMAUROSIS 13
OMIM608830.0004 Diseasep.THR49METLEBER CONGENITAL AMAUROSIS 13
OMIM608830.0001 Diseasep.TYR226CYSLEBER CONGENITAL AMAUROSIS 13



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