N(alpha)-acetyltransferase 10, NatA catalytic subunit (NAA10) - coding DNA reference sequence

(used for variant description)

(last modified June 30, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_003491.3 in the NAA10 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_031987.1, covering NAA10 transcript NM_003491.3.

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

 (upstream sequence)
                                                   .                g.5010
                                                   gaccggctcc       c.-241

 .         .         .         .         .         .                g.5070
 gcgcattggcccgccccgtgcgctggcctgtcccgcgcattggccaagcggccgggagga       c.-181

 .         .         .         .         .         .                g.5130
 cgggcccggcggccgtgcacttccggccggtggccggcccggcgcgcaccgccccttccg       c.-121

 .         .         .         .         .         .                g.5190
 ccgtcgcccagcgagcccagctccggtcccagccccggccgtcccggcgtcgcttcggag       c.-61

 .         .         .         .         .         .                g.5250
 cgcggcggcagctgactgcgccttcacgatccgctgggacccgcgagccccgccgccgtt       c.-1

          .         .  | 02      .         .         .         .    g.5718
 ATGAACATCCGCAATGCGAGG | CCAGAGGACCTAATGAACATGCAGCACTGCAACCTCCTC    c.60
 M  N  I  R  N  A  R   | P  E  D  L  M  N  M  Q  H  C  N  L  L      p.20

          .         .         .         .         .         .       g.5778
 TGCCTGCCCGAGAACTACCAGATGAAATACTACTTCTACCATGGCCTTTCCTGGCCCCAG       c.120
 C  L  P  E  N  Y  Q  M  K  Y  Y  F  Y  H  G  L  S  W  P  Q         p.40

  | 03       .         .         .         .         .          | 04 g.7571
  | CTCTCTTACATTGCTGAGGACGAGAATGGGAAGATTGTGGGGTATGTCCTGGCCAAAAT | G c.180
  | L  S  Y  I  A  E  D  E  N  G  K  I  V  G  Y  V  L  A  K  M  |   p.60

          .         .         .         .      | 05  .         .    g.7738
 GAAGAGGACCCAGATGATGTGCCCCATGGACATATCACCTCATTG | GCTGTGAAGCGTTCC    c.240
 E  E  D  P  D  D  V  P  H  G  H  I  T  S  L   | A  V  K  R  S      p.80

          .         .         .         .         .         .       g.7798
 CACCGGCGCCTCGGTCTGGCTCAGAAACTGATGGACCAGGCCTCTCGAGCCATGATAGAG       c.300
 H  R  R  L  G  L  A  Q  K  L  M  D  Q  A  S  R  A  M  I  E         p.100

          .         .         .         .  | 06      .         .    g.8058
 AACTTCAATGCCAAATATGTCTCCCTGCATGTCAGGAAGAG | TAACCGGGCCGCCCTGCAC    c.360
 N  F  N  A  K  Y  V  S  L  H  V  R  K  S  |  N  R  A  A  L  H      p.120

          .         .       | 07 .         .         .         .    g.9341
 CTCTATTCCAACACCCTCAACTTTCA | GATCAGTGAAGTGGAGCCCAAATACTATGCAGAT    c.420
 L  Y  S  N  T  L  N  F  Q  |  I  S  E  V  E  P  K  Y  Y  A  D      p.140

          .         .         .         .         .  | 08      .    g.9940
 GGGGAGGACGCCTATGCCATGAAGCGGGACCTCACTCAGATGGCCGACGAG | CTGAGGCGG    c.480
 G  E  D  A  Y  A  M  K  R  D  L  T  Q  M  A  D  E   | L  R  R      p.160

          .         .         .         .         .         .       g.10000
 CACCTGGAGCTGAAAGAGAAGGGCAGGCACGTGGTGCTGGGTGCCATCGAGAACAAGGTG       c.540
 H  L  E  L  K  E  K  G  R  H  V  V  L  G  A  I  E  N  K  V         p.180

          .         .         .         .         .         .       g.10060
 GAGAGCAAAGGCAATTCACCTCCGAGCTCAGGAGAGGCCTGTCGCGAGGAGAAGGGCCTG       c.600
 E  S  K  G  N  S  P  P  S  S  G  E  A  C  R  E  E  K  G  L         p.200

          .         .         .         .         .         .       g.10120
 GCTGCCGAGGATAGTGGTGGGGACAGCAAGGACCTCAGCGAGGTCAGCGAGACCACAGAG       c.660
 A  A  E  D  S  G  G  D  S  K  D  L  S  E  V  S  E  T  T  E         p.220

          .         .         .         .                           g.10168
 AGCACAGATGTCAAGGACAGCTCAGAGGCCTCCGACTCAGCCTCCTAG                   c.708
 S  T  D  V  K  D  S  S  E  A  S  D  S  A  S  X                     p.235

          .         .         .         .         .         .       g.10228
 agcctgccccatcccctcctcaccccacgagctttcacaataaattcgctccgtggcact       c.*60

          .         .         .         .         .         .       g.10288
 ggggaactttgtgtgtgagcgcgcgcacatttagagggtgtgtttctccaggtcctctgg       c.*120

          .         .         .         .                           g.10328
 tggggatgtgagccttggccttttgacccagagcatcctg                           c.*160

 (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 N(alpha)-acetyltransferase 10, NatA catalytic subunit 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 variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.