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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13402: Variant p.Arg1873Trp

Unconventional myosin-VIIa
Gene: MYO7A
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Variant information Variant position: help 1873 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 Arginine (R) to Tryptophan (W) at position 1873 (R1873W, p.Arg1873Trp). 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 large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Variant description: help In USH1B. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1873 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2215 The length of the canonical sequence.
Location on the sequence: help HVQRFLQSRKHCPLAIDCLQ R LQKALRNGSRKYPPHLVEVE 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                         HVQRFLQSRKHCPLAIDCLQRLQKALRNGSRKYPPHLVEVE

Mouse                         HVQRFLQSRKHCPLAIDCLQRLQKALRNGSRKYPPHLVEVE

Drosophila                    ELLLFLRTRRH-PISQDSMHRLQKTIRHGQRKYPPHQVEVE

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 – 2215 Unconventional myosin-VIIa
Domain 1747 – 1896 MyTH4 2
Alternative sequence 1201 – 2215 Missing. In isoform 3 and isoform 4.
Helix 1867 – 1880



Literature citations
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Roux A.-F.; Faugere V.; Le Guedard S.; Pallares-Ruiz N.; Vielle A.; Chambert S.; Marlin S.; Hamel C.; Gilbert B.; Malcolm S.; Claustres M.;
J. Med. Genet. 43:763-768(2006)
Cited for: VARIANTS USH1B ASP-133; ARG-163; ARG-164; MET-165; THR-198; ALA-204; ASP-519; LYS-1170; GLN-1240; PRO-1858; TRP-1873 AND PHE-1962 DEL; VARIANTS MET-1566 AND CYS-1719;
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.