Variant position: 179 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 377 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 DGVTHNVPIYEGYALPHAIM RLDLAGRDLTDYLMKILTERG
Mouse DGVTHNVPIYEGYALPHAIM RLDLAGRDLTDYLMKILTERG
Rat DGVTHNVPIYEGYALPHAIM RLDLAGRDLTDYLMKILTERG
Bovine DGVTHNVPIYEGYALPHAIM RLDLAGRDLTDYLMKILTERG
Rabbit DGVTHNVPIYEGYALPHAIM RLDLAGRDLTDYLMKILTERG
Chicken DGVTHNVPIYEGYALPHAIM RLDLAGRDLTDYLMKILSERG
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
2 – 377 Actin, aortic smooth muscle, intermediate form
3 – 377 Actin, aortic smooth muscle
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
Milewicz D.M.; Ostergaard J.R.; Ala-Kokko L.M.; Khan N.; Grange D.K.; Mendoza-Londono R.; Bradley T.J.; Olney A.H.; Ades L.; Maher J.F.; Guo D.; Buja L.M.; Kim D.; Hyland J.C.; Regalado E.S.;
Am. J. Med. Genet. A 152:2437-2443(2010)
Cited for: VARIANT MSMDYS HIS-179;
Analysis of ACTA2 in European Moyamoya disease patients.
Roder C.; Peters V.; Kasuya H.; Nishizawa T.; Wakita S.; Berg D.; Schulte C.; Khan N.; Tatagiba M.; Krischek B.;
Eur. J. Paediatr. Neurol. 15:117-122(2011)
Cited for: VARIANT MYMY5 HIS-179;
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