UniProtKB/SwissProt variant VAR

Variant information

Variant position:

86

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 Cysteine (C) to Tyrosine (Y) at position 86 (C86Y, p.Cys86Tyr).

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 (C) to large size and aromatic (Y)

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

BLOSUM score:

-2

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 RP2.

Any additional useful information about the variant.

Sequence information

Variant position:

86

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

Protein sequence length:

350

The length of the canonical sequence.

Location on the sequence:

DCENCNIYIFDHSATVTIDD C TNCIIFLGPVKGSVFFRNCR

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                         DCENCNIYIFDHSATVTIDDCTNCIIFLGPVKGSVFFRNCR

Mouse                         DCENCNIYIFDHSATITIDDCTNCVIFLGPVKGSVFFRNCR

Chicken                       DCENCSIYIFDHSATVTIDDCVNCQIFLGPIKGSVFFRNCK

Xenopus laevis                ECENCNIYIFDHSATITIDDCTNCRIFLGPVKGSVFFRDCK

Zebrafish                     DCENCNIFVLDHSATITIDDCVNCRIVLGPVKGSVFFRDCK

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 – 350	Protein XRP2
Domain	24 – 179	C-CAP/cofactor C-like
Mutagenesis	101 – 101	F -> A. Reduces affinity for mouse ARL3.

Literature citations

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
Sharon D.; Bruns G.A.P.; McGee T.L.; Sandberg M.A.; Berson E.L.; Dryja T.P.;
Invest. Ophthalmol. Vis. Sci. 41:2712-2721(2000)
Cited for: VARIANTS RP2 TYR-86; LEU-95; HIS-118 AND ILE-137 DEL; VARIANT TRP-282;

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
Sharon D.; Sandberg M.A.; Rabe V.W.; Stillberger M.; Dryja T.P.; Berson E.L.;
Am. J. Hum. Genet. 73:1131-1146(2003)
Cited for: VARIANTS RP2 TYR-86; LEU-95; HIS-118 AND ILE-137 DEL; VARIANT TRP-282;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75695: Variant p.Cys86Tyr