Variant position: 458 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 IFGFENFAVNSFEQLCINFA NEHLQQFFVRHVFKLEQEEYD
Mouse IFGFENFTVNSFEQLCINFA NEHLQQFFVRHVFKLEQEEYD
Drosophila IFGFENFDQNSFEQFCINYA NENLQQFFVQHIFKLEQEEYN
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
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
Luijendijk M.W.J.; Van Wijk E.; Bischoff A.M.L.C.; Krieger E.; Huygen P.L.M.; Pennings R.J.E.; Brunner H.G.; Cremers C.W.R.J.; Cremers F.P.M.; Kremer H.;
Hum. Genet. 115:149-156(2004)
Cited for: VARIANT DFNA11 ILE-458;
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