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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08100: Variant p.Ala292Glu

Rhodopsin
Gene: RHO
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Variant information Variant position: help 292 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 Alanine (A) to Glutamate (E) at position 292 (A292E, p.Ala292Glu). 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 small size and hydrophobic (A) to medium size and acidic (E) 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 CSNBAD1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 292 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 AFYIFTHQGSNFGPIFMTIP A FFAKSAAIYNPVIYIMMNKQ 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                         AFYIFTHQGSNFGPIFMTIPAFFAKSAAIYNPVIYIMMNKQ

                              AFYIFTHQGSDFGPIFMTLPAFFAKSSSIYNPVIYIMMNKQ

Mouse                         AFYIFTHQGSNFGPIFMTLPAFFAKSSSIYNPVIYIMLNKQ

Rat                           AMYIFTHQGSNFGPIFMTLPAFFAKTASIYNPIIYIMMNKQ

Pig                           AFYIFTHQGSDFGPIFMTIPAFFAKSASIYNPVIYIMMNKQ

Bovine                        AFYIFTHQGSDFGPIFMTIPAFFAKTSAVYNPVIYIMMNKQ

Rabbit                        AFYIFTHQGSNFGPIFMTIPAFFAKSSSIYNPVIYIMMNKQ

Sheep                         AFYIFTHQGSDFGPIFMTIPAFFAKSSSVYNPVIYIMMNKQ

Cat                           AFYIFTHQGSNFGPIFMTLPAFFAKSSSIYNPVIYIMMNKQ

Chicken                       AFYIFTNQGSDFGPIFMTIPAFFAKSSAIYNPVIYIVMNKQ

Xenopus laevis                AFYIFTHQGSNFGPVFMTVPAFFAKSSAIYNPVIYIVLNKQ

Zebrafish                     AWYIFTHQGSEFGPVFMTLPAFFAKTSAVYNPCIYICMNKQ

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 285 – 309 Helical; Name=7
Binding site 279 – 279
Modified residue 296 – 296 N6-(retinylidene)lysine
Helix 285 – 306



Literature citations
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.
Dryja T.P.; Berson E.L.; Rao V.R.; Oprian D.D.;
Nat. Genet. 4:280-283(1993)
Cited for: VARIANT CSNBAD1 GLU-292;
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.