methionine adenosyltransferase I, alpha (MAT1A) - coding DNA reference sequence

(used for variant description)

(last modified July 12, 2024)

This file was created to facilitate the description of sequence variants on transcript NM_000429.2 in the MAT1A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000010.10, covering MAT1A transcript NM_000429.2.

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

 (upstream sequence)
                                                   .                g.5015
                                              gagtcgctcaggagc       c.-241

 .         .         .         .         .         .                g.5075
 aagctgtggcaagctggagggagggacacatcccgtgttccatccactccctcccttctc       c.-181

 .         .         .         .         .         .                g.5135
 agcagtcctcgcctgttctcacgtgctcacaggcagttaggcagaagtgatccccgtggc       c.-121

 .         .         .         .         .         .                g.5195
 tctgccaaagacaagcctgttgggttgaaagaagaagaagaagaagaaaaaaaaactcag       c.-61

 .         .         .         .         .         .                g.5255
 gcaaagtcacagcctcaaaattgttcactgaaagaagcgtgagtggagaagtgtgagaag       c.-1

          .         .         .         .         .         .       g.5315
 ATGAATGGACCGGTGGATGGCTTGTGTGACCACTCTCTAAGTGAAGGAGTCTTCATGTTC       c.60
 M  N  G  P  V  D  G  L  C  D  H  S  L  S  E  G  V  F  M  F         p.20

          .         .         .  | 02      .         .         .    g.9118
 ACATCGGAGTCTGTGGGAGAGGGACACCCGG | ATAAGATCTGTGACCAGATCAGTGATGCA    c.120
 T  S  E  S  V  G  E  G  H  P  D |   K  I  C  D  Q  I  S  D  A      p.40

          .         .         .         .          | 03        .    g.10651
 GTGCTGGATGCCCATCTCAAGCAAGACCCCAATGCCAAGGTGGCCTGTG | AGACAGTGTGC    c.180
 V  L  D  A  H  L  K  Q  D  P  N  A  K  V  A  C  E |   T  V  C      p.60

          .         .         .         .         .         .       g.10711
 AAGACCGGCATGGTGCTGCTGTGTGGTGAGATCACCTCAATGGCCATGGTGGACTACCAG       c.240
 K  T  G  M  V  L  L  C  G  E  I  T  S  M  A  M  V  D  Y  Q         p.80

          .         .         .         .         .   | 04     .    g.13894
 CGGGTGGTGAGGGACACCATCAAGCACATCGGCTACGATGACTCAGCCAAGG | GCTTTGAC    c.300
 R  V  V  R  D  T  I  K  H  I  G  Y  D  D  S  A  K  G |   F  D      p.100

          .         .         .         .         .         .       g.13954
 TTCAAGACTTGCAACGTGCTGGTGGCTTTGGAGCAGCAATCCCCAGATATTGCCCAGTGC       c.360
 F  K  T  C  N  V  L  V  A  L  E  Q  Q  S  P  D  I  A  Q  C         p.120

          .         .         .         .      | 05  .         .    g.14377
 GTCCATCTGGACAGAAATGAGGAGGATGTGGGGGCAGGAGATCAG | GGTTTGATGTTCGGC    c.420
 V  H  L  D  R  N  E  E  D  V  G  A  G  D  Q   | G  L  M  F  G      p.140

          .         .         .         .         .         .       g.14437
 TATGCTACCGACGAGACAGAGGAGTGCATGCCCCTCACCATCATCCTTGCTCACAAGCTC       c.480
 Y  A  T  D  E  T  E  E  C  M  P  L  T  I  I  L  A  H  K  L         p.160

          .         .         .         .         .         .       g.14497
 AACGCCCGGATGGCAGACCTCAGGCGCTCCGGCCTCCTCCCCTGGCTGCGGCCTGACTCT       c.540
 N  A  R  M  A  D  L  R  R  S  G  L  L  P  W  L  R  P  D  S         p.180

           | 06        .         .         .         .         .    g.18135
 AAGACTCAG | GTGACAGTTCAGTACATGCAGGACAATGGCGCAGTCATCCCTGTGCGCATC    c.600
 K  T  Q   | V  T  V  Q  Y  M  Q  D  N  G  A  V  I  P  V  R  I      p.200

          .         .         .         .         .         .       g.18195
 CACACCATCGTCATCTCTGTGCAGCACAACGAAGACATCACGCTGGAGGAGATGCGCAGG       c.660
 H  T  I  V  I  S  V  Q  H  N  E  D  I  T  L  E  E  M  R  R         p.220

          .         .         .         .         .         .       g.18255
 GCCCTGAAGGAGCAAGTCATCAGGGCCGTGGTGCCGGCCAAGTACCTGGACGAAGACACC       c.720
 A  L  K  E  Q  V  I  R  A  V  V  P  A  K  Y  L  D  E  D  T         p.240

          .         .         .         .         | 07         .    g.19491
 GTCTACCACCTGCAGCCCAGTGGGCGGTTTGTCATCGGAGGTCCCCAG | GGGGATGCGGGT    c.780
 V  Y  H  L  Q  P  S  G  R  F  V  I  G  G  P  Q   | G  D  A  G      p.260

          .         .         .         .         .         .       g.19551
 GTCACTGGCCGTAAGATTATTGTGGACACCTATGGCGGCTGGGGGGCTCATGGTGGTGGG       c.840
 V  T  G  R  K  I  I  V  D  T  Y  G  G  W  G  A  H  G  G  G         p.280

          .         .         .         .         .         .       g.19611
 GCCTTCTCTGGGAAGGACTACACCAAGGTAGACCGCTCAGCTGCATATGCTGCCCGCTGG       c.900
 A  F  S  G  K  D  Y  T  K  V  D  R  S  A  A  Y  A  A  R  W         p.300

          .         .         .         .         .  | 08      .    g.20034
 GTGGCCAAGTCTCTGGTGAAAGCAGGGCTCTGCCGGAGAGTGCTTGTCCAG | GTTTCCTAT    c.960
 V  A  K  S  L  V  K  A  G  L  C  R  R  V  L  V  Q   | V  S  Y      p.320

          .         .         .         .         .         .       g.20094
 GCCATTGGTGTGGCCGAGCCGCTGTCCATTTCCATCTTCACCTACGGAACCTCTCAGAAG       c.1020
 A  I  G  V  A  E  P  L  S  I  S  I  F  T  Y  G  T  S  Q  K         p.340

          .         .         .         .         .         .       g.20154
 ACAGAGCGAGAGCTGCTGGATGTGGTGCATAAGAACTTCGACCTCCGGCCGGGCGTCATT       c.1080
 T  E  R  E  L  L  D  V  V  H  K  N  F  D  L  R  P  G  V  I         p.360

       | 09  .         .         .         .         .         .    g.20850
 GTCAG | GGATTTGGACTTGAAGAAGCCCATCTACCAGAAGACAGCATGCTACGGCCATTTC    c.1140
 V  R  |  D  L  D  L  K  K  P  I  Y  Q  K  T  A  C  Y  G  H  F      p.380

          .         .         .         .                           g.20898
 GGAAGAAGCGAGTTCCCATGGGAGGTTCCCAGGAAGCTTGTATTTTAG                   c.1188
 G  R  S  E  F  P  W  E  V  P  R  K  L  V  F  X                     p.395

          .         .         .         .         .         .       g.20958
 agccagggggagctgggcctggtctcaccctggaggcacctggtggccatgctcctcttc       c.*60

          .         .         .         .         .         .       g.21018
 cccagacgcctggctgctgatcgccttccccacccaccaaccctcagggcaaagccaggt       c.*120

          .         .         .         .         .         .       g.21078
 ccctctcatttagcctgtcctgtcatcatcatggccagctggaggcaggggcttcctggt       c.*180

          .         .         .         .         .         .       g.21138
 gctggaggttggatcttgatgtaaggatgggcatggtgttctcctgctgctccctcagac       c.*240

          .         .         .         .         .         .       g.21198
 tggggcaatgttaatttagtggaaaaggcacccccgtcaagagtgaattccctcactcgt       c.*300

          .         .         .         .         .         .       g.21258
 ctcccccaacagctggaccctgaccagctccccctccctccccttgcctgtgccaggtga       c.*360

          .         .         .         .         .         .       g.21318
 ggtcagcacatctcaacaggcctcagggctccttgtgggcctgggctcctggacccccct       c.*420

          .         .         .         .         .         .       g.21378
 ttcacaggcagccagtgccctgagccagggtctccagaaagccccacccaggccaggcat       c.*480

          .         .         .         .         .         .       g.21438
 gtggcaggggttagagcaggactgatgtctcctaagcacctgtaatgtgcgagggaccca       c.*540

          .         .         .         .         .         .       g.21498
 gctaataactgatctcgttttttcttcactgcaacatgatgaggtagtaccttttatatc       c.*600

          .         .         .         .         .         .       g.21558
 ccatttatagatgggggaaagcaaagcacagagagtctggataacttccacagggtccca       c.*660

          .         .         .         .         .         .       g.21618
 cagccacgtgtttagacctagatgtataactaggagctttgactcaggagcctgtgacat       c.*720

          .         .         .         .         .         .       g.21678
 accccctcccccaccgttgtctcatgccagtaacaggctcaaacaatgacaaagcagatt       c.*780

          .         .         .         .         .         .       g.21738
 cagaaatgaggccatggactctgtcctgaaggcctgaggttactggaaattaggggatta       c.*840

          .         .         .         .         .         .       g.21798
 acccactagctcttgttgagccgtgggcaattgtctgaaaagtgaagacagaaccacagg       c.*900

          .         .         .         .         .         .       g.21858
 gctattttgtttgcttcatgtgtcccagaagatgactgagggtgagttggcttacctggc       c.*960

          .         .         .         .         .         .       g.21918
 ccatcagggtaggctggagttagggactgaccagcagctttagaatcccagccccctgac       c.*1020

          .         .         .         .         .         .       g.21978
 cactcagagacatgcagagattgggtttttggacttctggggtaagtggtctaagtccag       c.*1080

          .         .         .         .         .         .       g.22038
 tccagtcctatctgggcttcctggagcagaagcagcaacttgtcctagcacagatggcca       c.*1140

          .         .         .         .         .         .       g.22098
 gccccttagacagaggccctcaagtctttctctttccctggtcccttgtatcccctgcag       c.*1200

          .         .         .         .         .         .       g.22158
 gctgagtgcatttggagggagtgagtggccctttcggatccagggaggctggtcctatgg       c.*1260

          .         .         .         .         .         .       g.22218
 cctcatgttaaataggcggggcttgccttctggtgttggacaagcttctgagacgtcatg       c.*1320

          .         .         .         .         .         .       g.22278
 aggagattctgcctttgccaggtgactgtctggggagcgggtctgctcccaaggggcctg       c.*1380

          .         .         .         .         .         .       g.22338
 agcagtccttggcctgctaaggtcttggaacttgcctgcctttccatccatggccagcag       c.*1440

          .         .         .         .         .         .       g.22398
 cacctgccctacctgccccacttgtccttagcctggacctctgacagcagcatctctacc       c.*1500

          .         .         .         .         .         .       g.22458
 ttctccccagctcccaggaccacaggctcaggcaggggcctccatgggccccaggggaac       c.*1560

          .         .         .         .         .         .       g.22518
 actggggacttggcctctctctagggtacatggtgctgggagaggcagcccaggaagtct       c.*1620

          .         .         .         .         .         .       g.22578
 catctggggagcaggcagccagcatctgggccttggcctggagcacaaagaccctggctt       c.*1680

          .         .         .         .         .         .       g.22638
 tcattttctctcaggtgaaaggaaattaaggcaacaaaagaagcccggctcctggtcacc       c.*1740

          .         .         .         .         .         .       g.22698
 taggaagcctcagattccttcccatggagggagggagtggtttgcaggtggccaagttcc       c.*1800

          .         .         .         .         .         .       g.22758
 tctaacttggctcacactcgacatgaaaattcagaattttatactttccctaccctctag       c.*1860

          .         .         .         .         .         .       g.22818
 agaaataagatcttttttgtcagtttgtttgtatgaaactaaagcctttatttgttaata       c.*1920

          .         .         .         .                           g.22859
 gttcctgctaaaacaatgaataaaaactcaaggagcaacta                          c.*1961

 (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 Methionine adenosyltransferase I, alpha 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.