Variant position: 1602 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 FTSSNAEDIRDLVVTFLEGL RKRSKYVVALQDNPNPAGEES
Mouse FTSSNAEDIRDLVVTFLEGL RKRSKYVVALQDNPNPAGEES
Drosophila FQSPNAEDIRDLVVYFLDGL KKRSKYVIALQDYRAPS-DGT
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
1258 – 1602 FERM 1
1201 – 2215 Missing. In isoform 3 and isoform 4.
Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.
Liu X.-Z.; Hope C.; Walsh J.; Newton V.; Ke X.M.; Liang C.Y.; Xu L.R.; Zhou J.M.; Trump D.; Steel K.P.; Bundey S.; Brown S.D.M.;
Am. J. Hum. Genet. 63:909-912(1998)
Cited for: VARIANTS USH1B PRO-651 AND GLN-1602;
Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.
Zhou X.L.; He L.X.; Yu L.J.; Wang Y.; Wang X.J.; Wang E.D.; Yang T.;
Hum. Mutat. 38:1740-1750(2017)
Cited for: VARIANT GLN-1602;
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