Variant position: 519 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 IANKPMNIISLIDEESKFPK GTDTTMLHKLNSQHKLNANYI
Mouse IANRPMNVISLIDEESKFPK GTDATMLHKLNSQHKLNANYV
Drosophila IAIKQLNIMALIDEEARFPK GTDQTMLAKLHKTHGSHKNYL
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
519 – 564 Missing. In isoform 5.
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.
Bharadwaj A.K.; Kasztejna J.P.; Huq S.; Berson E.L.; Dryja T.P.;
Exp. Eye Res. 71:173-181(2000)
Cited for: VARIANTS USH1B GLU-26; MET-67; PRO-90; ASN-134; CYS-241; LYS-269 DEL; VAL-457; ASP-519; ASP-968; GLN-1240; PRO-1288; PHE-1346 DEL; TRP-1743; PRO-1858; LEU-1887 AND ASP-2187;
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;
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.