Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q16518
44888872

RPE65_HUMAN RecName: Full=Retinoid isomerohydrolase; AltName: Full=All-trans-retinyl-palmitate hydrolase; AltName: Full=Retinal pigment epithelium-specific 65 kDa protein; AltName: Full=Retinol isomerase

Known Diseases associated with this Protein:
  LEBER CONGENITAL AMAUROSIS 2
  LEBER CONGENITAL AMAUROSIS 2 (LCA2)
  LEBER CONGENITAL AMAUROSIS 2, INCLUDED
  RETINITIS PIGMENTOSA 20
  RETINITIS PIGMENTOSA 20 (RP20)
48
7
10
1
44
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

COG3670 - COG3670
RPE65 - pfam03055


Swiss-Prot Protein: Q16518
Identical to: NP_000320
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG3670COG36707.5e-121533
RPE65pfam030552.4e-18613533

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060819Diseasep.ALA393GLULeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_017140Diseasep.ALA393GLYLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_017132Diseasep.ALA132THRRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_034477Diseasep.ALA434VALLeber congenital amaurosis 2 (LCA2)
dbSNPrs34627040 Polymorphismp.ALA434VALN/A
Swiss-ProtVAR_017128Diseasep.ARG44GLNLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_017131Diseasep.ARG91GLNLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_060810Polymorphismp.ARG85HISN/A
Swiss-ProtVAR_067161Diseasep.ARG91PROLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_037619Diseasep.ARG515TRPRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_017130Diseasep.ARG91TRPRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_017136Diseasep.ASN321LYSLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_067757Polymorphismp.ASP477GLYN/A
Swiss-ProtVAR_060814Diseasep.ASP167TYRRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_060818Diseasep.CYS330TYRLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_060813Diseasep.GLU148ASPLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_017141Diseasep.GLU417GLNLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_060811Diseasep.GLU95GLNRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_060812Diseasep.GLU102LYSRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_067164Polymorphismp.GLY333ARGN/A
Swiss-ProtVAR_017127Diseasep.GLY40SERLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_060821Diseasep.GLY436VALRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_060824Diseasep.GLY528VALRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_067163Diseasep.HIS313ARGLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_060815Diseasep.HIS182ASNLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_017134Diseasep.HIS182TYRLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_017129Diseasep.HIS68TYRLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_070172Polymorphismp.LEU67ARGN/A
Swiss-ProtVAR_017126Diseasep.LEU22PROLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_017137Diseasep.LEU341SERRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_060817Diseasep.LYS294THRRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_067160Diseasep.PHE70VALRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_060822Diseasep.PRO470LEULeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_017138Diseasep.PRO363THRLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_017133Diseasep.TYR144ASPLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_060816Diseasep.TYR239ASPRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_070173Polymorphismp.TYR368CYSN/A
Swiss-ProtVAR_018151Diseasep.TYR431CYSLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_060820Diseasep.TYR435CYSLeber congenital amaurosis 2 (LCA2)
Swiss-ProtVAR_017139Diseasep.TYR368HISRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_060809Diseasep.TYR79HISRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_060823Diseasep.VAL473ASPRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_017142Diseasep.VAL452GLYRetinitis pigmentosa 20 (RP20)
Swiss-ProtVAR_067162Polymorphismp.VAL99ILEN/A
Swiss-ProtVAR_017135Diseasep.VAL287PHELeber congenital amaurosis 2 (LCA2)
OMIM180069.0005 Diseasep.ALA132THRRETINITIS PIGMENTOSA 20
OMIM180069.0002 Diseasep.ARG234TERLEBER CONGENITAL AMAUROSIS 2
OMIM180069.0008 Diseasep.ARG515TRPRETINITIS PIGMENTOSA 20||LEBER CONGENITAL AMAUROSIS 2, INCLUDED
OMIM180069.0006 Diseasep.ARG91TRPRETINITIS PIGMENTOSA 20
OMIM180069.0004 Diseasep.LEU341SERRETINITIS PIGMENTOSA 20
OMIM180069.0011 Diseasep.LYS303TERLEBER CONGENITAL AMAUROSIS 2
OMIM180069.0003 Diseasep.PRO363THRRETINITIS PIGMENTOSA 20
OMIM180069.0012 Diseasep.TYR431CYSLEBER CONGENITAL AMAUROSIS 2
OMIM180069.0009 Diseasep.TYR368HISRETINITIS PIGMENTOSA 20||LEBER CONGENITAL AMAUROSIS 2, INCLUDED
OMIM180069.0007 Diseasep.VAL452GLYRETINITIS PIGMENTOSA 20



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258