Variant position: 117 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 RVAPEEHPTLLTEAPLNPKA NREKMTQIMFETFNVPAMYVA
Mouse RVAPEEHPTLLTEAPLNPKA NREKMTQIMFETFNVPAMYVA
Rat RVAPEEHPTLLTEAPLNPKA NREKMTQIMFETFNVPAMYVA
Bovine RVAPEEHPTLLTEAPLNPKA NREKMTQIMFETFNVPAMYVA
Rabbit RVAPEEHPTLLTEAPLNPKA NREKMTQIMFETFNVPAMYVA
Chicken RVAPEEHPTLLTEAPLNPKA NREKMTQIMFETFNVPAMYVA
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) lead to thoracic aortic aneurysms and dissections.
Guo D.-C.; Pannu H.; Tran-Fadulu V.; Papke C.L.; Yu R.K.; Avidan N.; Bourgeois S.; Estrera A.L.; Safi H.J.; Sparks E.; Amor D.; Ades L.; McConnell V.; Willoughby C.E.; Abuelo D.; Willing M.; Lewis R.A.; Kim D.H.; Scherer S.; Tung P.P.; Ahn C.; Buja L.M.; Raman C.S.; Shete S.S.; Milewicz D.M.;
Nat. Genet. 39:1488-1493(2007)
Cited for: VARIANTS AAT6 THR-117; GLN-118; HIS-135; CYS-149; ALA-154; CYS-258; HIS-258; GLY-292 AND ASN-353;
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;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.