UniProtKB/SwissProt variant VAR

Variant information

Variant position:

167

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 Aspartate (D) to Tyrosine (Y) at position 167 (D167Y, p.Asp167Tyr).

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 acidic (D) to large size and aromatic (Y)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-3

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 RP20 and LCA2.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs61752883 [ dbSNP | Ensembl ]

Sequence information

Variant position:

167

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:

TETNFITKINPETLETIKQV D LCNYVSVNGATAHPHIENDG

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                         TETNFITKINPETLETIKQVDLCNYVSVNGATAHPHIENDG

                              TETNFITKINPETLETIKQVDLCNYVSVNGATAHPHIENDG

Mouse                         TETNFITKINPETLETIKQVDLCNYISVNGATAHPHIESDG

Rat                           TETNFITKINPETLETIKQVDLCNYVSVNGATAHPHIESDG

Bovine                        TETNFITKVNPETLETIKQVDLCNYVSVNGATAHPHIENDG

Chicken                       TETNFITKINPDTLETIKQVDLCKYVSVNGATAHPHVENDG

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.

Type	Positions	Description
Chain	2 – 533	Retinoid isomerohydrolase
Metal binding	180 – 180	Iron; catalytic
Mutagenesis	170 – 170	N -> K. Increased isomerohydrolase activity.
Mutagenesis	180 – 180	H -> A. Loss of enzymatic activity.

Literature citations

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
Thompson D.A.; Gyuerues P.; Fleischer L.L.; Bingham E.L.; McHenry C.L.; Apfelstedt-Sylla E.; Zrenner E.; Lorenz B.; Richards J.E.; Jacobson S.G.; Sieving P.A.; Gal A.;
Invest. Ophthalmol. Vis. Sci. 41:4293-4299(2000)
Cited for: VARIANTS RP20 HIS-79; HIS-85; TRP-91; GLN-95; THR-132; TYR-167; THR-294; VAL-436 AND VAL-528;

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q16518: Variant p.Asp167Tyr