ACTin, Alpha 1 (skeletal muscle) (ACTA1) - coding DNA reference sequence

(used for mutation description)

(last modified December 10, 2009)

This file was created to facilitate the description of sequence variants in the ACTA1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_006672.1, covering ACTA1 transcript NM_001100.3.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                     .         .         .         .                g.5045
                ccaccgcagcggacagcgccaagtgaagcctcgcttcccctccgc       c.-61

 .         .         .         .         .        | 02.             g.5981
 ggcgaccagggcccgagccgagagtagcagttgtagctacccgcccag | aaactagacaca    c.-1

          .         .         .         .         .         .       g.6041
 ATGTGCGACGAAGACGAGACCACCGCCCTCGTGTGCGACAATGGCTCCGGCCTGGTGAAA       c.60
 M  C  D  E  D  E  T  T  A  L  V  C  D  N  G  S  G  L  V  K         p.20

          .         .         .         .         .         .       g.6101
 GCCGGCTTCGCCGGGGATGACGCCCCTAGGGCCGTGTTCCCGTCCATCGTGGGCCGCCCC       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.6267
 CGACACCAG | GGCGTCATGGTCGGTATGGGTCAGAAAGATTCCTACGTGGGCGACGAGGCT    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.6327
 CAGAGCAAGAGAGGTATCCTGACCCTGAAGTACCCTATCGAGCACGGCATCATCACCAAC       c.240
 Q  S  K  R  G  I  L  T  L  K  Y  P  I  E  H  G  I  I  T  N         p.80

          .         .         .         .         .         .       g.6387
 TGGGATGACATGGAGAAGATCTGGCACCACACCTTCTACAACGAGCTTCGCGTGGCTCCC       c.300
 W  D  D  M  E  K  I  W  H  H  T  F  Y  N  E  L  R  V  A  P         p.100

          .         .         .         .         .         .       g.6447
 GAGGAGCACCCCACCCTGCTCACCGAGGCCCCCCTCAATCCCAAGGCCAACCGCGAGAAG       c.360
 E  E  H  P  T  L  L  T  E  A  P  L  N  P  K  A  N  R  E  K         p.120

          .         .         .         .         .         .       g.6507
 ATGACCCAGATCATGTTTGAGACCTTCAACGTGCCCGCCATGTACGTGGCCATCCAGGCC       c.420
 M  T  Q  I  M  F  E  T  F  N  V  P  A  M  Y  V  A  I  Q  A         p.140

          .         .         .     | 04   .         .         .    g.6691
 GTGCTGTCCCTCTACGCCTCCGGCAGGACCACCG | GCATCGTGCTGGACTCCGGCGACGGC    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.6751
 GTCACCCACAACGTGCCCATTTATGAGGGCTACGCGCTGCCGCACGCCATCATGCGCCTG       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.6811
 GACCTGGCGGGCCGCGATCTCACCGACTACCTGATGAAGATCCTCACTGAGCGTGGCTAC       c.600
 D  L  A  G  R  D  L  T  D  Y  L  M  K  I  L  T  E  R  G  Y         p.200

          .       | 05 .         .         .         .         .    g.6955
 TCCTTCGTGACCACAG | CTGAGCGCGAGATCGTGCGCGACATCAAGGAGAAGCTGTGCTAC    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.7015
 GTGGCCCTGGACTTCGAGAACGAGATGGCGACGGCCGCCTCCTCCTCCTCCCTGGAAAAG       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.7075
 AGCTACGAGCTGCCAGACGGGCAGGTCATCACCATCGGCAACGAGCGCTTCCGCTGCCCG       c.780
 S  Y  E  L  P  D  G  Q  V  I  T  I  G  N  E  R  F  R  C  P         p.260

          .         .         | 06         .         .         .    g.7226
 GAGACGCTCTTCCAGCCCTCCTTCATCG | GTATGGAGTCGGCGGGCATTCACGAGACCACC    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.7286
 TACAACAGCATCATGAAGTGTGACATCGACATCAGGAAGGACCTGTATGCCAACAACGTC       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.7346
 ATGTCGGGGGGCACCACGATGTACCCTGGGATCGCTGACCGCATGCAGAAAGAGATCACC       c.960
 M  S  G  G  T  T  M  Y  P  G  I  A  D  R  M  Q  K  E  I  T         p.320

          .         .         . | 07       .         .         .    g.7484
 GCGCTGGCACCCAGCACCATGAAGATCAAG | ATCATCGCCCCGCCGGAGCGCAAATACTCG    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.7544
 GTGTGGATCGGCGGCTCCATCCTGGCCTCGCTGTCCACCTTCCAGCAGATGTGGATCACC       c.1080
 V  W  I  G  G  S  I  L  A  S  L  S  T  F  Q  Q  M  W  I  T         p.360

          .         .         .         .         .                 g.7598
 AAGCAGGAGTACGACGAGGCCGGCCCTTCCATCGTCCACCGCAAATGCTTCTAG             c.1134
 K  Q  E  Y  D  E  A  G  P  S  I  V  H  R  K  C  F  X               p.377

          .         .         .         .         .         .       g.7658
 acacactccacctccagcacgcgacttctcaggacgacgaatcttctcaatgggggggcg       c.*60

          .         .         .         .         .         .       g.7718
 gctgagctccagccaccccgcagtcactttctttgtaacaacttccgttgctgccatcgt       c.*120

          .         .         .         .         .         .       g.7778
 aaactgacacagtgtttataacgtgtacatacattaacttattacctcattttgttattt       c.*180

          .         .         .         .         .         .       g.7838
 ttcgaaacaaagccctgtggaagaaaatggaaaacttgaagaagcattaaagtcattctg       c.*240

          .                                                         g.7852
 ttaagctgcgtaaa                                                     c.*254

 (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 10^th nucleotide is indicated by a "." above the sequence. The ACTin, Alpha 1 (skeletal muscle) protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.