Results for the protein: Q16518

Results for the Protein: Q16518

44888872

6121

RPE65

NCBI, UniProt

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:

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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 ↕
RPE65	pfam03055	2.4e-186	13	533

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_060819	Disease	p.ALA393GLU	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_017140	Disease	p.ALA393GLY	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_017132	Disease	p.ALA132THR	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_034477	Disease	p.ALA434VAL	Leber congenital amaurosis 2 (LCA2)
dbSNP	rs34627040	Polymorphism	p.ALA434VAL	N/A
Swiss-Prot	VAR_017128	Disease	p.ARG44GLN	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_017131	Disease	p.ARG91GLN	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_060810	Polymorphism	p.ARG85HIS	N/A
Swiss-Prot	VAR_067161	Disease	p.ARG91PRO	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_037619	Disease	p.ARG515TRP	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_017130	Disease	p.ARG91TRP	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_017136	Disease	p.ASN321LYS	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_067757	Polymorphism	p.ASP477GLY	N/A
Swiss-Prot	VAR_060814	Disease	p.ASP167TYR	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_060818	Disease	p.CYS330TYR	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_060813	Disease	p.GLU148ASP	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_017141	Disease	p.GLU417GLN	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_060811	Disease	p.GLU95GLN	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_060812	Disease	p.GLU102LYS	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_067164	Polymorphism	p.GLY333ARG	N/A
Swiss-Prot	VAR_017127	Disease	p.GLY40SER	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_060821	Disease	p.GLY436VAL	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_060824	Disease	p.GLY528VAL	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_067163	Disease	p.HIS313ARG	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_060815	Disease	p.HIS182ASN	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_017134	Disease	p.HIS182TYR	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_017129	Disease	p.HIS68TYR	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_070172	Polymorphism	p.LEU67ARG	N/A
Swiss-Prot	VAR_017126	Disease	p.LEU22PRO	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_017137	Disease	p.LEU341SER	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_060817	Disease	p.LYS294THR	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_067160	Disease	p.PHE70VAL	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_060822	Disease	p.PRO470LEU	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_017138	Disease	p.PRO363THR	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_017133	Disease	p.TYR144ASP	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_060816	Disease	p.TYR239ASP	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_070173	Polymorphism	p.TYR368CYS	N/A
Swiss-Prot	VAR_018151	Disease	p.TYR431CYS	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_060820	Disease	p.TYR435CYS	Leber congenital amaurosis 2 (LCA2)
Swiss-Prot	VAR_017139	Disease	p.TYR368HIS	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_060809	Disease	p.TYR79HIS	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_060823	Disease	p.VAL473ASP	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_017142	Disease	p.VAL452GLY	Retinitis pigmentosa 20 (RP20)
Swiss-Prot	VAR_067162	Polymorphism	p.VAL99ILE	N/A
Swiss-Prot	VAR_017135	Disease	p.VAL287PHE	Leber congenital amaurosis 2 (LCA2)
OMIM	180069.0005	Disease	p.ALA132THR	RETINITIS PIGMENTOSA 20
OMIM	180069.0002	Disease	p.ARG234TER	LEBER CONGENITAL AMAUROSIS 2
OMIM	180069.0008	Disease	p.ARG515TRP	RETINITIS PIGMENTOSA 20\|\|LEBER CONGENITAL AMAUROSIS 2, INCLUDED
OMIM	180069.0006	Disease	p.ARG91TRP	RETINITIS PIGMENTOSA 20
OMIM	180069.0004	Disease	p.LEU341SER	RETINITIS PIGMENTOSA 20
OMIM	180069.0011	Disease	p.LYS303TER	LEBER CONGENITAL AMAUROSIS 2
OMIM	180069.0003	Disease	p.PRO363THR	RETINITIS PIGMENTOSA 20
OMIM	180069.0012	Disease	p.TYR431CYS	LEBER CONGENITAL AMAUROSIS 2
OMIM	180069.0009	Disease	p.TYR368HIS	RETINITIS PIGMENTOSA 20\|\|LEBER CONGENITAL AMAUROSIS 2, INCLUDED
OMIM	180069.0007	Disease	p.VAL452GLY	RETINITIS PIGMENTOSA 20

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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