adenosine deaminase, tRNA-specific 3 (ADAT3) - coding DNA reference sequence

(used for variant description)

(last modified October 9, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_138422.2 in the ADAT3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_051211.1, covering ADAT3 transcript NM_138422.2.

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

 (upstream sequence)
                     .         .         .         .                g.5046
               gaggtgggttgggccgggccggttgctaagacttggcgaagcgctg       c.-181

 .         .         .  | 02      .         .         .             g.11556
 cgctcgcgcccggatccctcag | gggttagcaggacatgagggagtgtagctctgatgcgg    c.-121

 .         .         .         .         .         .                g.11616
 tgacctgggccggagccctcggactagcctcagctttggtggcagcacgccctgccttgt       c.-61

 .         .         .         .         .         .                g.11676
 ggagccacggcctcccgggacggactccccggctctcccccagccgcccgcagccgccgg       c.-1

          .         .         .         .         .         .       g.11736
 ATGATCCTCTGCTCCCGTCTCTGTCTCCCACAGTCGGCCTCGCTGAGGATGGAGCCCGCC       c.60
 M  I  L  C  S  R  L  C  L  P  Q  S  A  S  L  R  M  E  P  A         p.20

          .         .         .         .         .         .       g.11796
 CCGGGCCTCGTGGAGCAGCCCAAGTGCTTGGAGGCCGGGAGCCCGGAGCCTGAGCCGGCG       c.120
 P  G  L  V  E  Q  P  K  C  L  E  A  G  S  P  E  P  E  P  A         p.40

          .         .         .         .         .         .       g.11856
 CCGTGGCAGGCCCTCCCTGTCCTGTCCGAGAAGCAGTCAGGGGACGTGGAGCTGGTGCTG       c.180
 P  W  Q  A  L  P  V  L  S  E  K  Q  S  G  D  V  E  L  V  L         p.60

          .         .         .         .         .         .       g.11916
 GCCTACGCCGCGCCCGTCCTGGACAAGCGCCAGACCTCACGCCTCCTGAAGGAGGTGTCG       c.240
 A  Y  A  A  P  V  L  D  K  R  Q  T  S  R  L  L  K  E  V  S         p.80

          .         .         .         .         .         .       g.11976
 GCCCTGCACCCGCTCCCCGCCCAGCCTCACCTCAAGCGGGTGCGGCCCAGCCGCGATGCC       c.300
 A  L  H  P  L  P  A  Q  P  H  L  K  R  V  R  P  S  R  D  A         p.100

          .         .         .         .         .         .       g.12036
 GGCAGCCCCCACGCCCTGGAGATGCTGCTTTGCCTGGCTGGGCCGGCCTCGGGCCCGCGC       c.360
 G  S  P  H  A  L  E  M  L  L  C  L  A  G  P  A  S  G  P  R         p.120

          .         .         .         .         .         .       g.12096
 TCGCTGGCTGAGCTCCTGCCACGGCCGGCTGTGGACCCCCGCGGCCTGGGGCAACCCTTC       c.420
 S  L  A  E  L  L  P  R  P  A  V  D  P  R  G  L  G  Q  P  F         p.140

          .         .         .         .         .         .       g.12156
 CTGGTGCCCGTGCCCGCCCGGCCGCCTCTGACCAGGGGCCAGTTCGAGGAGGCCCGGGCC       c.480
 L  V  P  V  P  A  R  P  P  L  T  R  G  Q  F  E  E  A  R  A         p.160

          .         .         .         .         .         .       g.12216
 CACTGGCCCACGTCCTTCCACGAGGACAAGCAGGTGACCAGCGCCCTGGCTGGGCGGCTC       c.540
 H  W  P  T  S  F  H  E  D  K  Q  V  T  S  A  L  A  G  R  L         p.180

          .         .         .         .         .         .       g.12276
 TTCTCCACGCAGGAGCGCGCCGCCATGCAGAGCCACATGGAGCGGGCGGTGTGGGCGGCC       c.600
 F  S  T  Q  E  R  A  A  M  Q  S  H  M  E  R  A  V  W  A  A         p.200

          .         .         .         .         .         .       g.12336
 CGGCGGGCAGCAGCGCGGGGCTTGCGGGCCGTGGGGGCCGTGGTAGTGGACCCGGCCTCG       c.660
 R  R  A  A  A  R  G  L  R  A  V  G  A  V  V  V  D  P  A  S         p.220

          .         .         .         .         .         .       g.12396
 GACCGCGTGCTGGCCACCGGCCACGACTGCAGCTGCGCGGACAACCCCCTCCTGCACGCC       c.720
 D  R  V  L  A  T  G  H  D  C  S  C  A  D  N  P  L  L  H  A         p.240

          .         .         .         .         .         .       g.12456
 GTCATGGTGTGCGTGGACCTCGTGGCGCGCGGCCAGGGCCGCGGCACCTACGACTTCAGA       c.780
 V  M  V  C  V  D  L  V  A  R  G  Q  G  R  G  T  Y  D  F  R         p.260

          .         .         .         .         .         .       g.12516
 CCCTTCCCCGCCTGCTCCTTCGCCCCGGCCGCTGCCCCCCAGGCCGTCCGCGCAGGCGCC       c.840
 P  F  P  A  C  S  F  A  P  A  A  A  P  Q  A  V  R  A  G  A         p.280

          .         .         .         .         .         .       g.12576
 GTGCGTAAACTGGACGCAGACGAGGACGGCCTCCCCTACCTGTGCACTGGCTACGACCTG       c.900
 V  R  K  L  D  A  D  E  D  G  L  P  Y  L  C  T  G  Y  D  L         p.300

          .         .         .         .         .         .       g.12636
 TACGTGACCCGCGAGCCCTGCGCCATGTGCGCCATGGCCCTGGTGCACGCACGCATCCTG       c.960
 Y  V  T  R  E  P  C  A  M  C  A  M  A  L  V  H  A  R  I  L         p.320

          .         .         .         .         .         .       g.12696
 CGCGTCTTCTACGGTGCGCCCTCGCCCGACGGCGCCCTGGGCACCCGCTTCCGCATCCAC       c.1020
 R  V  F  Y  G  A  P  S  P  D  G  A  L  G  T  R  F  R  I  H         p.340

          .         .         .         .         .         .       g.12756
 GCACGGCCCGACCTCAACCACCGCTTCCAGGTGTTCCGCGGGGTGCTGGAGGAGCAGTGC       c.1080
 A  R  P  D  L  N  H  R  F  Q  V  F  R  G  V  L  E  E  Q  C         p.360

          .         .                                               g.12780
 CGCTGGCTGGACCCCGACACGTAG                                           c.1104
 R  W  L  D  P  D  T  X                                             p.367

          .         .         .         .         .         .       g.12840
 gcgccgccctcctgcctccggacccttcccgctcccggccgtggggcgcccctcctggac       c.*60

          .         .         .         .         .         .       g.12900
 ttccgggcctcgatttcttccgcacaagcctgaccgtggatttcagggacacataccgcc       c.*120

          .         .         .         .         .         .       g.12960
 tccagcggggagcacgggtgctgccttccgtgcggatcgagctttcctggactcggtcat       c.*180

          .         .         .         .         .         .       g.13020
 tggggccaccccgtgccagcggtgcccttctgcggccgcccttgctgcgtttgtgtcccc       c.*240

          .         .         .         .         .                 g.13076
 tctgtctcgcgggccgggaaactgctctgatgggaaaataaacagcccaaaaccaa           c.*296

 (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 Adenosine deaminase, tRNA-specific 3 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.