Ankyrin repeat domain 1 (cardiac muscle) (ANKRD1) - coding DNA reference sequence

(used for mutation description)

(last modified April 14, 2013)

This file was created to facilitate the description of sequence variants in the ANKRD1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_023227.1, covering ANKRD1 transcript NM_014391.2.

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

 (upstream sequence)
                                                                    g.5008
                                                     catattca       c.-241

 .         .         .         .         .         .                g.5068
 gcagggttagcttgtcctcccctccctcttcagcttcccagacactgagtctggaatgaa       c.-181

 .         .         .         .         .         .                g.5128
 aattcacctgcctctgagttggctcctaatgggggtgggagtgttacttcggttcccagg       c.-121

 .         .         .         .         .         .                g.5188
 ttggaagattatctcacccggccccagctatataagctgaccggtgtggaggggcccagc       c.-61

 .         .         .         .         .         .                g.5248
 agggccaactccagggattccttccacgacagaaaaacatacaagactccttcagccaac       c.-1

          .         .        | 02.         .         .         .    g.5960
 ATGATGGTACTGAAAGTAGAGGAACTG | GTCACTGGAAAGAAGAATGGCAATGGGGAGGCA    c.60
 M  M  V  L  K  V  E  E  L   | V  T  G  K  K  N  G  N  G  E  A      p.20

          .         .         .         .         .         .       g.6020
 GGGGAATTCCTTCCTGAGGATTTCAGAGATGGAGAGTATGAAGCTGCTGTTACTTTAGAG       c.120
 G  E  F  L  P  E  D  F  R  D  G  E  Y  E  A  A  V  T  L  E         p.40

          .         .         .         .         .         .       g.6080
 AAGCAGGAGGATCTGAAGACACTTCTAGCCCACCCTGTGACCCTGGGGGAGCAACAGTGG       c.180
 K  Q  E  D  L  K  T  L  L  A  H  P  V  T  L  G  E  Q  Q  W         p.60

          .         .        | 03.         .         .         .    g.7040
 AAAAGCGAGAAACAACGAGAGGCAGAG | CTCAAAAAGAAAAAACTAGAACAAAGATCAAAG    c.240
 K  S  E  K  Q  R  E  A  E   | L  K  K  K  K  L  E  Q  R  S  K      p.80

          .         .         .         .         .         .       g.7100
 CTTGAAAATTTAGAAGACCTTGAAATAATCATTCAACTGAAGAAAAGGAAAAAATACAGG       c.300
 L  E  N  L  E  D  L  E  I  I  I  Q  L  K  K  R  K  K  Y  R         p.100

          .         .         .         .      | 04  .         .    g.7318
 AAAACTAAAGTTCCAGTTGTAAAGGAACCAGAACCTGAAATCATT | ACGGAACCTGTGGAT    c.360
 K  T  K  V  P  V  V  K  E  P  E  P  E  I  I   | T  E  P  V  D      p.120

          .         .         .         .         .         .       g.7378
 GTGCCTACGTTTCTGAAGGCTGCTCTGGAGAATAAACTGCCAGTAGTAGAAAAATTCTTG       c.420
 V  P  T  F  L  K  A  A  L  E  N  K  L  P  V  V  E  K  F  L         p.140

          .         .         .    | 05    .         .         .    g.8472
 TCAGACAAGAACAATCCAGATGTTTGTGATGAG | TATAAACGGACAGCTCTTCATAGAGCA    c.480
 S  D  K  N  N  P  D  V  C  D  E   | Y  K  R  T  A  L  H  R  A      p.160

          .         .         .         .         .         .       g.8532
 TGCTTGGAAGGACATTTGGCAATTGTGGAGAAGTTAATGGAAGCTGGAGCCCAGATCGAA       c.540
 C  L  E  G  H  L  A  I  V  E  K  L  M  E  A  G  A  Q  I  E         p.180

          .   | 06     .         .         .         .         .    g.10054
 TTCCGTGATATG | CTTGAATCCACAGCCATCCACTGGGCAAGCCGTGGAGGAAACCTGGAT    c.600
 F  R  D  M   | L  E  S  T  A  I  H  W  A  S  R  G  G  N  L  D      p.200

          .         .         .         .         .  | 07      .    g.10404
 GTTTTAAAATTGTTGCTGAATAAAGGAGCAAAAATTAGCGCCCGAGATAAG | TTGCTCAGC    c.660
 V  L  K  L  L  L  N  K  G  A  K  I  S  A  R  D  K   | L  L  S      p.220

          .         .         .         .         .         .       g.10464
 ACAGCGCTGCATGTGGCGGTGAGGACTGGCCACTATGAGTGCGCGGAGCATCTTATCGCC       c.720
 T  A  L  H  V  A  V  R  T  G  H  Y  E  C  A  E  H  L  I  A         p.240

          .         .         . | 08       .         .         .    g.10664
 TGTGAGGCAGACCTCAACGCCAAAGACAGA | GAAGGAGATACCCCGTTGCATGATGCGGTG    c.780
 C  E  A  D  L  N  A  K  D  R   | E  G  D  T  P  L  H  D  A  V      p.260

          .         .         .         .         .         .       g.10724
 AGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATC       c.840
 R  L  N  R  Y  K  M  I  R  L  L  I  M  Y  G  A  D  L  N  I         p.280

           | 09        .         .         .         .         .    g.13350
 AAGAACTGT | GCTGGGAAGACGCCGATGGATCTGGTGCTACACTGGCAGAATGGAACCAAA    c.900
 K  N  C   | A  G  K  T  P  M  D  L  V  L  H  W  Q  N  G  T  K      p.300

          .         .         .         .         .         .       g.13410
 GCAATATTCGACAGCCTCAGAGAGAACTCCTACAAGACCTCTCGCATAGCTACATTCTGA       c.960
 A  I  F  D  S  L  R  E  N  S  Y  K  T  S  R  I  A  T  F  X         p.319

          .         .         .         .         .         .       g.13470
 ggcaaacgacagactcttaatcagtaaatgttcactggcattttgaaggcatggcccaag       c.*60

          .         .         .         .         .         .       g.13530
 agaagagacactagccataaaatctagtttctatttatcaacgtgttgtgaagatgtacc       c.*120

          .         .         .         .         .         .       g.13590
 taatgaagttttgagaaagcacagggttataggtgtttaaatttcctttagtgaaactct       c.*180

          .         .         .         .         .         .       g.13650
 tatttatttttatgtattcctgtttatttatttactgccacgctactgatattcagacct       c.*240

          .         .         .         .         .         .       g.13710
 tcatgatcatccatctggtgagcagagcttcatttgtatataacactttcagagccttcc       c.*300

          .         .         .         .         .         .       g.13770
 cacccataggtagttcttaaaccaggtgaaagagcaaagttcaagtgcctacttatgtgt       c.*360

          .         .         .         .         .         .       g.13830
 cattcgctcatgtaagagtttttaagagagggctgattatcacagccctcttttctcctg       c.*420

          .         .         .         .         .         .       g.13890
 aatttttaatgcagaagtttgaatgaagcaagggaaggcatgtagggacaggaaaggaaa       c.*480

          .         .         .         .         .         .       g.13950
 caatggaaggaaagtgattctgtgaaaaggacagtgaagccagctattttacccccaggc       c.*540

          .         .         .         .         .         .       g.14010
 tggattttttttttttttttttttttttttttttaccgagtacacagagtacccaagtga       c.*600

          .         .         .         .         .         .       g.14070
 agagaacgtcatgagtgtaagtgcaaatcagtggaaggagcggcaaactgggacatgcag       c.*660

          .         .         .         .         .         .       g.14130
 aattgaatttgctcaaaaaagatgaaaggaaatgcaaactgtaaatgtataaatgtatat       c.*720

          .         .         .         .                           g.14176
 tgtattgtatgtacattttatattcataataaaggcaatcaaactc                     c.*766

 (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 Ankyrin repeat domain 1 (cardiac 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.