Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08100: Variant p.Asn15Ser

Rhodopsin
Gene: RHO
Feedback?
Variant information Variant position: help 15 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 Asparagine (N) to Serine (S) at position 15 (N15S, p.Asn15Ser). 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 polar (N) to small size and polar (S) 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 15 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 MNGTEGPNFYVPFS N ATGVVRSPFEYPQYYLAEPW 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                         MNGTEGPNFYVPFSNATGVVRSPFEYPQYYLAEPW

                              MNGTEGPNFYVPFSNKTGVVRSPFEYPQYYLAEPW

Mouse                         MNGTEGPNFYVPFSNVTGVVRSPFEQPQYYLAEPW

Rat                           MNGTEGPNFYVPFSNITGVVRSPFEQPQYYLAEPW

Pig                           MNGTEGPNFYVPFSNKTGVVRSPFEYPQYYLAEPW

Bovine                        MNGTEGPNFYVPFSNKTGVVRSPFEAPQYYLAEPW

Rabbit                        MNGTEGPDFYIPMSNQTGVVRSPFEYPQYYLAEPW

Sheep                         MNGTEGPNFYVPFSNKTGVVRSPFEAPQYYLAEPW

Cat                           MNGTEGPNFYVPFSNKTGVVRSPFEYPQYYLAEPW

Chicken                       MNGTEGQDFYVPMSNKTGVVRSPFEYPQYYLAEPW

Xenopus laevis                MNGTEGPNFYVPMSNKTGVVRSPFDYPQYYLAEPW

Zebrafish                     MNGTEGPAFYVPMSNATGVVRSPYEYPQYYLVAPW
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 1 – 36 Extracellular
Modified residue 1 – 1 N-acetylmethionine
Glycosylation 2 – 2 N-linked (GlcNAc...) asparagine
Glycosylation 15 – 15 N-linked (GlcNAc...) asparagine



Literature citations
Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.
Kranich H.; Bartkowski S.; Denton M.J.; Krey S.; Dickinson P.; Duvigneau C.; Gal A.;
Hum. Mol. Genet. 2:813-814(1993)
Cited for: VARIANT RP4 SER-15;
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.