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UniProtKB/Swiss-Prot Q16518: Variant p.His313Arg

Retinoid isomerohydrolase
Gene: RPE65
Variant information

Variant position:  313
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Histidine (H) to Arginine (R) at position 313 (H313R, p.His313Arg).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (H) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In LCA2.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  313
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  533
The length of the canonical sequence.

Location on the sequence:   DKKRKKYLNNKYRTSPFNLF  H HINTYEDNGFLIVDLCCWKG
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         DKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKG

                              DKKRKKYLNNKYRTSSFNLFHHINTYEDNEFLIVDLCCWKG

Mouse                         DKKRRKYFNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKG

Rat                           DKKRRKYFNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKG

Bovine                        DKKRKKYINNKYRTSPFNLFHHINTYEDHEFLIVDLCCWKG

Chicken                       EKKKGRLLNIKYRTSAFNLFHHINTFEDNGFLIVDLCTWKG

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 2 – 533 Retinoid isomerohydrolase
Metal binding 313 – 313 Iron; catalytic
Lipidation 329 – 329 S-palmitoyl cysteine; in membrane form
Lipidation 330 – 330 S-palmitoyl cysteine; in membrane form
Mutagenesis 297 – 297 K -> G. Increased isomerohydrolase activity.
Mutagenesis 313 – 313 H -> A. Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability.
Mutagenesis 330 – 330 C -> T. Does not affect isomerohydrolase activity.


Literature citations

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
Simonelli F.; Ziviello C.; Testa F.; Rossi S.; Fazzi E.; Bianchi P.E.; Fossarello M.; Signorini S.; Bertone C.; Galantuomo S.; Brancati F.; Valente E.M.; Ciccodicola A.; Rinaldi E.; Auricchio A.; Banfi S.;
Invest. Ophthalmol. Vis. Sci. 48:4284-4290(2007)
Cited for: VARIANTS LCA2 PRO-22; VAL-70; PRO-91; LYS-102; ASP-144; TYR-167 AND ARG-313;

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.