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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08100: Variant p.Pro267Arg

Rhodopsin
Gene: RHO
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Variant information Variant position: help 267 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 Proline (P) to Arginine (R) at position 267 (P267R, p.Pro267Arg). 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 medium size and hydrophobic (P) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In RP4. Any additional useful information about the variant.


Sequence information Variant position: help 267 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 EKEVTRMVIIMVIAFLICWV P YASVAFYIFTHQGSNFGPIF 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                         EKEVTRMVIIMVIAFLICWVPYASVAFYIFTHQGSNFGPIF

                              EKEVTRMVIIMVIAFLICWVPYASVAFYIFTHQGSDFGPIF

Mouse                         EKEVTRMVIIMVIFFLICWLPYASVAFYIFTHQGSNFGPIF

Rat                           EKEVTRMVIIMVIFFLICWLPYASVAMYIFTHQGSNFGPIF

Pig                           EKEVTRMVIIMVVAFLICWLPYASVAFYIFTHQGSDFGPIF

Bovine                        EKEVTRMVIIMVIAFLICWLPYAGVAFYIFTHQGSDFGPIF

Rabbit                        EKEVTRMVIIMVIAFLICWVPYASVAFYIFTHQGSNFGPIF

Sheep                         EKEVTRMVIIMVIAFLICWLPYAGVAFYIFTHQGSDFGPIF

Cat                           EKEVTRMVIIMVIAFLICWVPYASVAFYIFTHQGSNFGPIF

Chicken                       EKEVTRMVIIMVIAFLICWVPYASVAFYIFTNQGSDFGPIF

Xenopus laevis                EKEVTRMVVIMVVFFLICWVPYAYVAFYIFTHQGSNFGPVF

Zebrafish                     EREVTRMVIIMVIAFLICWLPYAGVAWYIFTHQGSEFGPVF

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
Transmembrane 253 – 274 Helical; Name=6
Binding site 279 – 279
Mutagenesis 257 – 257 M -> Y. Induces a conformation change that promotes interaction with GRK1 and SAG; when associated with Q-113.
Helix 241 – 277



Literature citations
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
Souied E.; Gerber S.; Rozet J.-M.; Bonneau D.; Dufier J.-L.; Ghazi I.; Philip N.; Soubrane G.; Coscas G.; Munnich A.;
Hum. Mol. Genet. 3:1433-1434(1994)
Cited for: VARIANTS RP4 PHE-127; PRO-131; ASN-178; ARG-267 AND ARG-297;
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.