UniProtKB/SwissProt variant VAR

Retinoid isomerohydrolase
Gene: RPE65
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Variant information Variant position:

287
Type of variant:

LP/P [Disclaimer]
Residue change:

From Valine (V) to Phenylalanine (F) at position 287 (V287F, p.Val287Phe).
Physico-chemical properties:

Change from medium size and hydrophobic (V) to large size and aromatic (F)
BLOSUM score:

-1
Variant description:

In LCA2.
Other resources:

Variant rs281865289 [ dbSNP | Ensembl ]

Sequence information Variant position:

287
Protein sequence length:

533
Location on the sequence:

SWSLWGANYMDCFESNETMG V WLHIADKKRKKYLNNKYRTS
Residue conservation:

Human                         SWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTS

                              SWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTS

Mouse                         SWSLWGANYMDCFESNESMGVWLHVADKKRRKYFNNKYRTS

Rat                           SWSLWGANYMDCFESNESMGVWLHVADKKRRKYFNNKYRTS

Bovine                        SWSLWGANYMDCFESNETMGVWLHIADKKRKKYINNKYRTS

Chicken                       SWSLWGANYMDCFESNETMGVWLHVAEKKKGRLLNIKYRTS

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	2 – 533	Retinoid isomerohydrolase
Mutagenesis	297 – 297	K -> G. Increased isomerohydrolase activity.

Literature citations
Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
Lotery A.J.; Namperumalsamy P.; Jacobson S.G.; Weleber R.G.; Fishman G.A.; Musarella M.A.; Hoyt C.S.; Heon E.; Levin A.; Jan J.; Lam B.; Carr R.E.; Franklin A.; Radha S.; Andorf J.L.; Sheffield V.C.; Stone E.M.;
Arch. Ophthalmol. 118:538-543(2000)
Cited for: VARIANTS LCA2 PHE-287 AND GLY-393; VARIANT LYS-321;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q16518: Variant p.Val287Phe