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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08100: Variant p.Arg135Trp

Rhodopsin
Gene: RHO
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Variant information Variant position: help 135 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Tryptophan (W) at position 135 (R135W, p.Arg135Trp). 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: help 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: help -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: help In RP4. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 135 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 348 The length of the canonical sequence.
Location on the sequence: help FFATLGGEIALWSLVVLAIE R YVVVCKPMSNFRFGENHAIM 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         FFATLGGEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIM

                              FFATLGGEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIM

Mouse                         FFATLGGEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIM

Rat                           FFATLGGEIGLWSLVVLAIERYVVVCKPMSNFRFGENHAIM

Pig                           FFATLGGEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIM

Bovine                        FFATLGGEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIM

Rabbit                        FFATLGGEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIM

Sheep                         FFATLGGEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIM

Cat                           FFATLGGEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIM

Chicken                       FFATLGGEIALWSLVVLAVERYVVVCKPMSNFRFGENHAIM

Xenopus laevis                FFATLGGEVALWSLVVLAVERYIVVCKPMANFRFGENHAIM

Zebrafish                     FFATLGGEMGLWSLVVLAIERWMVVCKPVSNFRFGENHAIM

Sequence annotation in neighborhood: help 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 1 – 348 Rhodopsin
Topological domain 134 – 152 Cytoplasmic
Motif 134 – 136 'Ionic lock' involved in activated form stabilization
Disulfide bond 110 – 187
Helix 106 – 140



Literature citations
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
Souied E.; Soubrane G.; Benlian P.; Coscas G.J.; Gerber S.; Munnich A.; Kaplan J.;
Am. J. Ophthalmol. 121:19-25(1996)
Cited for: VARIANT RP4 TRP-135; Next-generation genetic testing for retinitis pigmentosa.
Neveling K.; Collin R.W.; Gilissen C.; van Huet R.A.; Visser L.; Kwint M.P.; Gijsen S.J.; Zonneveld M.N.; Wieskamp N.; de Ligt J.; Siemiatkowska A.M.; Hoefsloot L.H.; Buckley M.F.; Kellner U.; Branham K.E.; den Hollander A.I.; Hoischen A.; Hoyng C.; Klevering B.J.; van den Born L.I.; Veltman J.A.; Cremers F.P.; Scheffer H.;
Hum. Mutat. 33:963-972(2012)
Cited for: VARIANTS RP4 TRP-135; SER-180 AND ASN-214;
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.