The UMD-ACTA2 mutations database
The gene

The gene encoding Smooth muscle aortic alpha-actin (ACTA2) lies on chromosome 10 at 10q23.31 (Ueyama et al, 1990) This small gene (42 kb) is fragmented into 9 exons, transcribed in a 1,3 kb mRNA that encodes a 377 amino acid protein.

Human sequence: NG_011541.1 .

Mutation names are given according to the HGVS nomenclature guidelines and numbered with respect to the ACTA2 gene cDNA sequence (+1=A of ATG).

Isoform 2: NM_001613.2 This isoform has been chosen as the “canonical” sequence. All positional information in this entry refers to it.
Isoform 1: NM_001141945.1

Table of exon coordinates  (Show/Hide)

ACTA2 coding sequence  (Show/Hide)

Exon phasing of the ACTA2 gene (Show/Hide)