UniProtKB/Swiss-Prot P23942: Variant p.Arg172Trp

Peripherin-2
Gene: PRPH2
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Variant information Variant position:

172 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Arginine (R) to Tryptophan (W) at position 172 (R172W, p.Arg172Trp). 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 large size and basic (R) to large size and aromatic (W) 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 some patients with macular dystrophy; also in a family affected by central areolar choroidal dystrophy. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs61755792 [ dbSNP | Ensembl ]

Sequence information Variant position:

172 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

346 The length of the canonical sequence.
Location on the sequence:

MKKTIDMLQIEFKCCGNNGF R DWFEIQWISNRYLDFSSKEV 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                         MKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEV

                              MKKTIDMLQIEFRCCGNNGFRDWFEIQWISNRYLDFSSKEV

Mouse                         MKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEV

Rat                           MKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEV

Bovine                        MKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEV

Cat                           MKKTIDLLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEV

Chicken                       MKKTIDMLQIEFKCCGNNGFKDWFEIQWISNRYLDFSSKEV

Xenopus laevis                LKKTIDLLQIEFKCCGNNGFRDWFELQWVSNRYLGGRSKEV

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	1 – 346	Peripherin-2
Topological domain	124 – 264	Lumenal

Literature citations
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
Wells J.; Wroblewski J.; Keen J.; Inglehearn C.; Jubb C.; Eckstein A.; Jay M.; Arden G.; Bhattacharya S.; Fitzke F.;
Nat. Genet. 3:213-218(1993)
Cited for: VARIANTS GLN-172 AND TRP-172; A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.
Reig C.; Serra A.; Gean E.; Vidal M.; Arumi J.; De la Calzada M.D.; Antich J.; Carballo M.;
Ophthalmic Genet. 16:39-44(1995)
Cited for: VARIANT TRP-172; Founder effect, seen in the British population, of the 172 peripherin/RDS mutation- and further refinement of genetic positioning of the peripherin/RDS gene.
Payne A.M.; Downes S.M.; Bessant D.A.R.; Bird A.C.; Bhattacharya S.S.;
Am. J. Hum. Genet. 62:192-195(1998)
Cited for: VARIANTS MDPT1 ARG-210; ARG-213 AND TRP-220; VARIANTS MACULAR DYSTROPHY TRP-172 AND ARG-219; ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
Poloschek C.M.; Bach M.; Lagreze W.A.; Glaus E.; Lemke J.R.; Berger W.; Neidhardt J.;
Invest. Ophthalmol. Vis. Sci. 51:4253-4265(2010)
Cited for: VARIANT MACULAR DYSTROPHY TRP-172;

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.