Home  |  Contact

UniProtKB/Swiss-Prot P04000: Variant p.Cys203Arg

Long-wave-sensitive opsin 1
Gene: OPN1LW
Chromosomal location: Xq28
Variant information

Variant position:  203
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 Cysteine (C) to Arginine (R) at position 203 (C203R, p.Cys203Arg).
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 medium size and polar (C) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  Blue cone monochromacy (BCM) [MIM:303700]: A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia. {ECO:0000269|PubMed:8213841, ECO:0000269|PubMed:8666378}. 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 BCM.
Any additional useful information about the variant.

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



Sequence information

Variant position:  203
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  364
The length of the canonical sequence.

Location on the sequence:   WTAPPIFGWSRYWPHGLKTS  C GPDVFSGSSYPGVQSYMIVL
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                         WTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQSYMIVL

                              WTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQSYMIVL

Bovine                        WTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQSYMIVL

Goat                          WTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQSYMIVL

Cat                           WTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQSYMIVL

Horse                         WTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQSYMIVL

Chicken                       WTAPPIFGWSRYWPHGLKTSCGPDVFSGSSDPGVQSYMVVL

Xenopus laevis                WCAPPMFGWSRFWPHGLKTSCGPDVFSGSSDPGVQSYMLVL

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 – 364 Long-wave-sensitive opsin 1
Topological domain 193 – 218 Extracellular
Disulfide bond 126 – 203


Literature citations

Genetic heterogeneity among blue-cone monochromats.
Nathans J.; Maumenee I.H.; Zrenner E.; Sadowski B.; Sharpe L.T.; Lewis R.A.; Hansen E.; Rosenberg T.; Schwartz M.; Heckenlively J.R.;
Am. J. Hum. Genet. 53:987-1000(1993)
Cited for: VARIANTS BCM ARG-203 AND LEU-307;

Gene conversion between red and defective green opsin gene in blue cone monochromacy.
Reyniers E.; Van Thienen M.N.; Meire F.; De Boulle K.; Devries K.; Kestelijn P.; Willems P.J.;
Genomics 29:323-328(1995)
Cited for: VARIANT BCM ARG-203;

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.