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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08100: Variant p.Pro347Ala

Rhodopsin
Gene: RHO
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Variant information Variant position: help 347 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 Proline (P) to Alanine (A) at position 347 (P347A, p.Pro347Ala). 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 hydrophobic (P) to small size and hydrophobic (A) 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.


Sequence information Variant position: help 347 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 PLGDDEASATVSKTETSQVA P A 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                         PLGDDE-ASATVSKTE-----TSQVAPA

                              PLGDDE-ASASASKTE-----T

Mouse                         PLGDDD-ASATASKTE-----T

Rat                           PLGDDE-ASATASKTE-----T

Pig                           PLGDDE-ASTTTSKTE-----T

Bovine                        PLGDDE-ASTTVSKTE-----T

Rabbit                        PLGDDE-ASATASKTE-----T

Sheep                         PLGDDE-ASTTVSKTE-----T

Cat                           PLGDDE-ASTTGSKTE-----T

Chicken                       PLGDED---TSAGKTETSSVST

Xenopus laevis                PFGDEDGSSAATSKTEASSVSS

Zebrafish                     PFEEEEGASTTASKTEASSVSS

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 310 – 348 Cytoplasmic
Region 330 – 348 Interaction with SAG
Modified residue 334 – 334 Phosphoserine
Modified residue 336 – 336 Phosphothreonine
Modified residue 338 – 338 Phosphoserine
Modified residue 340 – 340 Phosphothreonine
Modified residue 342 – 342 Phosphothreonine
Modified residue 343 – 343 Phosphoserine
Mutagenesis 343 – 343 S -> A. Loss of phosphorylation sites and decreased interaction with SAG; when associated with 336-A--A-338.



Literature citations
Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.
Macke J.P.; Hennessey J.C.; Nathans J.;
Hum. Mol. Genet. 4:775-776(1995)
Cited for: VARIANT RP4 ALA-347;
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.