Variant position: 397 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:
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 TRGETVSTPLSREQALDVRD AFVKGIYGRLFVWIVDKINAA
Mouse TRGETVSTPLSREQALDVRD AFVKGIYGRLFVWIVEKINAA
Drosophila AHGETVVSTLSRDQSVDVRD AFVKGIYGRMFVHIVRKINTA
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.
Type Positions Description
1 – 2215 Unconventional myosin-VIIa
65 – 741 Myosin motor
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.
Adato A.; Weil D.; Kalinski H.; Pel-Or Y.; Ayadi H.; Petit C.; Korostishevsky M.; Bonne-Tamir B.;
Am. J. Hum. Genet. 61:813-821(1997)
Cited for: VARIANTS USH1B ARG-214; ASP-397 AND THR-826; POLYMORPHISM;
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;
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.