Variant position: 370 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 STFQQMWISKQEYDESGPSI VHRKCF
Mouse STFQQMWISKQEYDESGPSI VHRKCF
Rat STFQQMWISKQEYDESGPSI VHRKCF
Bovine STFQQMWISKQEYDESGPSI VHRKCF
Chicken STFQQMWISKQEYDESGPSI VHRKCF
Xenopus laevis STFQQMWISKQEYDESGPSI VHRKCF
Xenopus tropicalis STFQQMWISKQEYDESGPSI VHRKCF
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
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
Rendtorff N.D.; Zhu M.; Fagerheim T.; Antal T.L.; Jones M.; Teslovich T.M.; Gillanders E.M.; Barmada M.; Teig E.; Trent J.M.; Friderici K.H.; Stephan D.A.; Tranebjaerg L.;
Eur. J. Hum. Genet. 14:1097-1105(2006)
Cited for: VARIANT DFNA20 ALA-370;
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