Variant position: 118 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 375 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 PEEHPVLLTEAPLNPKANRE KMTQIMFETFNTPAMYVAIQA
Mouse PEEHPVLLTEAPLNPKANRE KMTQIMFETFNTPAMYVAIQA
Rat PEEHPVLLTEAPLNPKANRE KMTQIMFETFNTPAMYVAIQA
Bovine PEEHPVLLTEAPLNPKANRE KMTQIMFETFNTPAMYVAIQA
Chicken PEEHPVLLTEAPLNPKANRE KMTQIMFETFNTPAMYVAIQA
Xenopus laevis PEEHPVLLTEAPLNPKANRE KMTQIMFETFNTPAMYVAIQA
Xenopus tropicalis PEEHPVLLTEAPLNPKANRE KMTQIMFETFNTPAMYVAIQA
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 – 375 Actin, cytoplasmic 2
2 – 375 Actin, cytoplasmic 2, N-terminally processed
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
Zhu M.; Yang T.; Wei S.; DeWan A.T.; Morell R.J.; Elfenbein J.L.; Fisher R.A.; Leal S.M.; Smith R.J.H.; Friderici K.H.;
Am. J. Hum. Genet. 73:1082-1091(2003)
Cited for: VARIANTS DFNA20 ILE-89; MET-118; LEU-264 AND ALA-332;
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