Variant position: 212 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 MKILTERGYSFVTTAEREIV RDIKEKLCYVALDFENEMATA
Mouse MKILTERGYSFVTTAEREIV RDIKEKLCYVALDFENEMATA
Rat MKILTERGYSFVTTAEREIV RDIKEKLCYVALDFENEMATA
Bovine MKILTERGYSFVTTAEREIV RDIKEKLCYVALDFENEMATA
Rabbit MKILTERGYSFVTTAEREIV RDIKEKLCYVALDFENEMATA
Chicken MKILSERGYSFVTTAEREIV RDIKEKLCYVALDFENEMATA
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
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
Guo D.-C.; Papke C.L.; Tran-Fadulu V.; Regalado E.S.; Avidan N.; Johnson R.J.; Kim D.H.; Pannu H.; Willing M.C.; Sparks E.; Pyeritz R.E.; Singh M.N.; Dalman R.L.; Grotta J.C.; Marian A.J.; Boerwinkle E.A.; Frazier L.Q.; LeMaire S.A.; Coselli J.S.; Estrera A.L.; Safi H.J.; Veeraraghavan S.; Muzny D.M.; Wheeler D.A.; Willerson J.T.; Yu R.K.; Shete S.S.; Scherer S.E.; Raman C.S.; Buja L.M.; Milewicz D.M.;
Am. J. Hum. Genet. 84:617-627(2009)
Cited for: VARIANTS AAT6 HIS-39; THR-117; GLN-118; CYS-149; ALA-154; GLN-185; GLN-212; HIS-258; CYS-258; ASN-326 AND ASN-353;
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).
Morisaki H.; Akutsu K.; Ogino H.; Kondo N.; Yamanaka I.; Tsutsumi Y.; Yoshimuta T.; Okajima T.; Matsuda H.; Minatoya K.; Sasaki H.; Tanaka H.; Ishibashi-Ueda H.; Morisaki T.;
Hum. Mutat. 30:1406-1411(2009)
Cited for: VARIANTS AAT6 CYS-145; CYS-149 AND GLN-212; PREDISPOSITION TO A VARIETY OF VASCULAR DISEASES;
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