Variant position: 187 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 EGYALPHAILRLDLAGRDLT DYLMKILTERGYSFTTTAERE
Mouse EGYALPHAILRLDLAGRDLT DYLMKILTERGYSFTTTAERE
Rat EGYALPHAILRLDLAGRDLT DYLMKILTERGYSFTTTAERE
Bovine EGYALPHAILRLDLAGRDLT DYLMKILTERGYSFTTTAERE
Chicken EGYALPHAILRLDLAGRDLT DYLMKILTERGYSFTTTAERE
Xenopus laevis EGYALPHAILRLDLAGRDLT DYLMKILTERGYSFTTTAERE
Xenopus tropicalis EGYALPHAILRLDLAGRDLT DYLMKILTERGYSFTTTAERE
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
Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.
Baek J.I.; Oh S.K.; Kim D.B.; Choi S.Y.; Kim U.K.; Lee K.Y.; Lee S.H.;
Orphanet J. Rare Dis. 7:60-60(2012)
Cited for: VARIANT DFNA20 HIS-187;
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