Home  |  Contact

UniProtKB/Swiss-Prot P08100: Variant p.Ser127Phe

Rhodopsin
Gene: RHO
Variant information

Variant position:  127
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 Serine (S) to Phenylalanine (F) at position 127 (S127F, p.Ser127Phe).
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 small size and polar (S) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  Retinitis pigmentosa 4 (RP4) [MIM:613731]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:12566452, ECO:0000269|PubMed:1302614, ECO:0000269|PubMed:1391967, ECO:0000269|PubMed:1833777, ECO:0000269|PubMed:1840561, ECO:0000269|PubMed:1862076, ECO:0000269|PubMed:1897520, ECO:0000269|PubMed:1985460, ECO:0000269|PubMed:19934218, ECO:0000269|PubMed:19960070, ECO:0000269|PubMed:2137202, ECO:0000269|PubMed:2215617, ECO:0000269|PubMed:22334370, ECO:0000269|PubMed:2239971, ECO:0000269|PubMed:7633434, ECO:0000269|PubMed:7981701, ECO:0000269|PubMed:7987326, ECO:0000269|PubMed:7987331, ECO:0000269|PubMed:8045708, ECO:0000269|PubMed:8076945, ECO:0000269|PubMed:8081400, ECO:0000269|PubMed:8088850, ECO:0000269|PubMed:8317502, ECO:0000269|PubMed:8353500, ECO:0000269|PubMed:8554077, ECO:0000269|PubMed:9452035}. 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 RP4.
Any additional useful information about the variant.



Sequence information

Variant position:  127
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:   PTGCNLEGFFATLGGEIALW  S LVVLAIERYVVVCKPMSNFR
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                         PTGCNLEGFFATLGGEIALWSLVVLAIERYVVVCKPMSNFR

                              PTGCNVEGFFATLGGEIALWSLVVLAIERYVVVCKPMSNFR

Mouse                         PTGCNLEGFFATLGGEIALWSLVVLAIERYVVVCKPMSNFR

Rat                           PTGCNLEGFFATLGGEIGLWSLVVLAIERYVVVCKPMSNFR

Pig                           PTGCNLEGFFATLGGEIALWSLVVLAIERYVVVCKPMSNFR

Bovine                        PTGCNLEGFFATLGGEIALWSLVVLAIERYVVVCKPMSNFR

Rabbit                        PTGCNVEGFFATLGGEIALWSLVVLAIERYVVVCKPMSNFR

Sheep                         PTGCNLEGFFATLGGEIALWSLVVLAIERYVVVCKPMSNFR

Cat                           PTGCNLEGFFATLGGEIALWSLVVLAIERYVVVCKPMSNFR

Chicken                       VTGCYIEGFFATLGGEIALWSLVVLAVERYVVVCKPMSNFR

Xenopus laevis                PTGCYIEGFFATLGGEVALWSLVVLAVERYIVVCKPMANFR

Zebrafish                     RLGCNLEGFFATLGGEMGLWSLVVLAIERWMVVCKPVSNFR

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 111 – 133 Helical; Name=3
Site 113 – 113 Plays an important role in the conformation switch to the active conformation
Disulfide bond 110 – 187
Mutagenesis 113 – 113 E -> Q. Induces a conformation change that promotes interaction with GRK1 and SAG; when associated with Y-257.
Helix 106 – 140


Literature citations

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
Souied E.; Gerber S.; Rozet J.-M.; Bonneau D.; Dufier J.-L.; Ghazi I.; Philip N.; Soubrane G.; Coscas G.; Munnich A.;
Hum. Mol. Genet. 3:1433-1434(1994)
Cited for: VARIANTS RP4 PHE-127; PRO-131; ASN-178; ARG-267 AND ARG-297;

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.