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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08100: Variant p.Met207Arg

Rhodopsin
Gene: RHO
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Variant information Variant position: help 207 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 Methionine (M) to Arginine (R) at position 207 (M207R, p.Met207Arg). 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 (M) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 207 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 CGIDYYTLKPEVNNESFVIY M FVVHFTIPMIIIFFCYGQLV 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                         CGIDYYTLKPEVNNESFVIYMFVVHFTIPMIIIFFCYGQLV

                              CGIDYYTLKPEINNESFVIYMFVVHFAIPMIVIFFCYGQLV

Mouse                         CGIDYYTLKPEVNNESFVIYMFVVHFTIPMIVIFFCYGQLV

Rat                           CGIDYYTLKPEVNNESFVIYMFVVHFTIPMIVIFFCYGQLV

Pig                           CGIDYYTLKPEVNNESFVIYMFVVHFSIPLVIIFFCYGQLV

Bovine                        CGIDYYTPHEETNNESFVIYMFVVHFIIPLIVIFFCYGQLV

Rabbit                        CGIDYYTLKPEVNNESFVIYMFVVHFTIPLIIIFFCYGQLV

Sheep                         CGALYFTLKPEINNESFVIYMFVVHFSIPLIVIFFCYGQLV

Cat                           CGIDYYTLKPEVNNESFVIYMFVVHFTIPMIVIFFCYGQLV

Chicken                       CGIDYYTLKPEINNESFVIYMFVVHFMIPLAVIFFCYGNLV

Xenopus laevis                CGVDYYTLKPEVNNESFVIYMFIVHFTIPLIVIFFCYGRLL

Zebrafish                     CGVDYYTRTPGVNNESFVIYMFIVHFFIPLIVIFFCYGRLV

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 203 – 224 Helical; Name=5
Binding site 201 – 201
Helix 200 – 209



Literature citations
Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.
Farrar G.J.; Findlay J.B.C.; Kumar-Singh R.; Kenna P.; Humphries M.M.; Sharpe E.; Humphries P.;
Hum. Mol. Genet. 1:769-771(1992)
Cited for: VARIANT RP4 ARG-207;
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.