actin, alpha 2, smooth muscle, aorta (ACTA2) - coding DNA reference sequence

(used for variant description)

(last modified February 14, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_001613.2 in the ACTA2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011541.1, covering ACTA2 transcript NM_001613.2.

Please note that introns are available by clicking on the exon numbers above the sequence. 
 (upstream sequence)
           .         .         .         .         .                g.43623
     gaggagagcaggccaaggggctatataacccttcagctttcagcttccctgaacac       c.-61

 .         .         .         .       | 02 .         .             g.47460
 cacccagtgtggagcagcccagccaagcactgtcagg | aatcctgtgaagcagctccagct    c.-1

          .         .         .         .         .         .       g.47520
 ATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAG       c.60
 M  C  E  E  E  D  S  T  A  L  V  C  D  N  G  S  G  L  C  K         p.20

          .         .         .         .         .         .       g.47580
 GCCGGCTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCC       c.120
 A  G  F  A  G  D  D  A  P  R  A  V  F  P  S  I  V  G  R  P         p.40

           | 03        .         .         .         .         .    g.49055
 AGACATCAG | GGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGGTGACGAAGCA    c.180
 R  H  Q   | G  V  M  V  G  M  G  Q  K  D  S  Y  V  G  D  E  A      p.60

          .         .         .         .         .         .       g.49115
 CAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAAC       c.240
 Q  S  K  R  G  I  L  T  L  K  Y  P  I  E  H  G  I  I  T  N         p.80

          .         | 04         .         .         .         .    g.52525
 TGGGACGACATGGAAAAG | ATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCT    c.300
 W  D  D  M  E  K   | I  W  H  H  S  F  Y  N  E  L  R  V  A  P      p.100

          .         .         .         .         .         .       g.52585
 GAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAA       c.360
 E  E  H  P  T  L  L  T  E  A  P  L  N  P  K  A  N  R  E  K         p.120

           | 05        .         .         .         .         .    g.54572
 ATGACTCAA | ATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCG    c.420
 M  T  Q   | I  M  F  E  T  F  N  V  P  A  M  Y  V  A  I  Q  A      p.140

          .         .         .     | 06   .         .         .    g.55026
 GTGCTGTCTCTCTATGCCTCTGGACGCACAACTG | GCATCGTGCTGGACTCTGGAGATGGT    c.480
 V  L  S  L  Y  A  S  G  R  T  T  G |   I  V  L  D  S  G  D  G      p.160

          .         .         .         .         .         .       g.55086
 GTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCATCATGCGTCTG       c.540
 V  T  H  N  V  P  I  Y  E  G  Y  A  L  P  H  A  I  M  R  L         p.180

          .         .         .         .         .         .       g.55146
 GATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTAT       c.600
 D  L  A  G  R  D  L  T  D  Y  L  M  K  I  L  T  E  R  G  Y         p.200

          .       | 07 .         .         .         .         .    g.56736
 TCCTTCGTTACTACTG | CTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTAT    c.660
 S  F  V  T  T  A |   E  R  E  I  V  R  D  I  K  E  K  L  C  Y      p.220

          .         .         .         .         .         .       g.56796
 GTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTCCCTTGAGAAG       c.720
 V  A  L  D  F  E  N  E  M  A  T  A  A  S  S  S  S  L  E  K         p.240

          .         .         .         .         .         .       g.56856
 AGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCA       c.780
 S  Y  E  L  P  D  G  Q  V  I  T  I  G  N  E  R  F  R  C  P         p.260

          .         .         | 08         .         .         .    g.58180
 GAGACCCTGTTCCAGCCATCCTTCATCG | GGATGGAGTCTGCTGGCATCCATGAAACCACC    c.840
 E  T  L  F  Q  P  S  F  I  G |   M  E  S  A  G  I  H  E  T  T      p.280

          .         .         .         .         .         .       g.58240
 TACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGCTAACAATGTC       c.900
 Y  N  S  I  M  K  C  D  I  D  I  R  K  D  L  Y  A  N  N  V         p.300

          .         .         .         .         .         .       g.58300
 CTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACG       c.960
 L  S  G  G  T  T  M  Y  P  G  I  A  D  R  M  Q  K  E  I  T         p.320

          .         .         . | 09       .         .         .    g.61054
 GCCCTAGCACCCAGCACCATGAAGATCAAG | ATCATTGCCCCTCCGGAGCGCAAATACTCT    c.1020
 A  L  A  P  S  T  M  K  I  K   | I  I  A  P  P  E  R  K  Y  S      p.340

          .         .         .         .         .         .       g.61114
 GTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGATGTGGATCAGC       c.1080
 V  W  I  G  G  S  I  L  A  S  L  S  T  F  Q  Q  M  W  I  S         p.360

          .         .         .         .         .                 g.61168
 AAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAA             c.1134
 K  Q  E  Y  D  E  A  G  P  S  I  V  H  R  K  C  F  X               p.377

          .         .         .         .         .         .       g.61228
 aacactttcctgctcctctctgtctctagcacacaactgtgaatgtcctgtggaattatg       c.*60

          .         .         .         .         .         .       g.61288
 ccttcagttcttttccaaatcattcctagccaaagctctgactcgttacctatgtgtttt       c.*120

          .         .                                               g.61317
 ttaataaatctgaaataggctactggtaa                                      c.*149

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Actin, alpha 2, smooth muscle, aorta protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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