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UniProtKB/Swiss-Prot Q13402: Variant p.Tyr1719Cys

Unconventional myosin-VIIa
Gene: MYO7A
Chromosomal location: 11q13.5
Variant information

Variant position:  1719
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Tyrosine (Y) to Cysteine (C) at position 1719 (Y1719C, p.Tyr1719Cys).
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 large size and aromatic (Y) to medium size and polar (C)
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

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



Sequence information

Variant position:  1719
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2215
The length of the canonical sequence.

Location on the sequence:   QLRTAEPEVRAKPYTLEEFS  Y DYFRPPPKHTLSRVMVSKAR
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                         QLRTAEPEVRAKPYTLEEFSYDYFRPPPKHTLSRVMVSKAR

Mouse                         QLRTAEPEVRAKPYTLEEFSYDYFRPPPKHTLSRVMVSKAR

Drosophila                    S-NGGAVEPRDRPHTLMEYALDHFRLPPKRTMSKTLTLSSK

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 – 2215 Unconventional myosin-VIIa
Alternative sequence 1201 – 2215 Missing. In isoform 3 and isoform 4.
Helix 1715 – 1721


Literature citations

Identification of three novel mutations in the MYO7A gene.
Cuevas J.M.; Espinos C.; Millan J.M.; Sanchez F.; Trujillo M.J.; Ayuso C.; Beneyto M.; Najera C.;
Hum. Mutat. 14:181-181(1999)
Cited for: VARIANT USH1B LYS-1170; VARIANT CYS-1719;

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
Najera C.; Beneyto M.; Blanca J.; Aller E.; Fontcuberta A.; Millan J.M.; Ayuso C.;
Hum. Mutat. 20:76-77(2002)
Cited for: VARIANTS USH1B ASP-397; LYS-1170; LYS-1327 AND 1347-ARG--PHE-1351 DEL; VARIANTS MET-1566 AND CYS-1719;

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.