Home  |  Contact

UniProtKB/Swiss-Prot P08100: Variant p.Gly90Asp

Rhodopsin
Gene: RHO
Variant information

Variant position:  90
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Aspartate (D) at position 90 (G90D, p.Gly90Asp).
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 glycine (G) to medium size and acidic (D)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269|PubMed:7846071, ECO:0000269|PubMed:8107847, ECO:0000269|PubMed:8358437, ECO:0000269|PubMed:9888392}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CSNBAD1; constitutive activity in the absence of bound retinal.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  90
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  348
The length of the canonical sequence.

Location on the sequence:   TPLNYILLNLAVADLFMVLG  G FTSTLYTSLHGYFVFGPTGC
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                         TPLNYILLNLAVADLFMVLGGFTSTLYTSLHGYFVFGPTGC

                              TPLNYILLNLAVADLFMVFGGFTTTLYTSLHGYFVFGPTGC

Mouse                         TPLNYILLNLAVADLFMVFGGFTTTLYTSLHGYFVFGPTGC

Rat                           TPLNYILLNLAVADLFMVFGGFTTTLYTSLHGYFVFGPTGC

Pig                           TPLNYILLNLAVADLFMVFGGFTTTLYTSLHGYFVFGPTGC

Bovine                        TPLNYILLNLAVADLFMVFGGFTTTLYTSLHGYFVFGPTGC

Rabbit                        TPLNYILLNLAVADLFMVLGGFTTTLYTSLHGYFVFGPTGC

Sheep                         TPLNYILLNLAVADLFMVFGGFTTTLYTSLHGYFVFGPTGC

Cat                           TPLNYILLNLAVADLFMVFGGFTTTLYTSLHGYFVFGPTGC

Chicken                       TPLNYILLNLVVADLFMVFGGFTTTMYTSMNGYFVFGVTGC

Xenopus laevis                TPLNYILLNLVFANHFMVLCGFTVTMYTSMHGYFIFGPTGC

Zebrafish                     TPLNYILLNLAIADLFMVFGGFTTTMYTSLHGYFVFGRLGC

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.

TypePositionsDescription
Chain 1 – 348 Rhodopsin
Transmembrane 74 – 96 Helical; Name=2
Helix 90 – 100


Literature citations

Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness.
Rao V.R.; Cohen G.B.; Oprian D.D.;
Nature 367:639-642(1994)
Cited for: CHARACTERIZATION OF VARIANT CSNBAD1 ASP-90; FUNCTION;

Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.
Sieving P.A.; Richards J.E.; Naarendorp F.; Bingham E.L.; Scott K.; Alpern M.;
Proc. Natl. Acad. Sci. U.S.A. 92:880-884(1995)
Cited for: VARIANT CSNBAD1 ASP-90; FUNCTION;

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.