guanidinoacetate N-methyltransferase (GAMT) - coding DNA reference sequence

(used for variant description)

(last modified November 16, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_000156.5 in the GAMT gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009785.1, covering GAMT transcript NM_000156.5.

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

 (upstream sequence)
                               .         .         .                g.5017
                           gggcctgttggacccgcccccggcccacaagccc       c.-61

 .         .         .         .         .         .                g.5077
 ctgcagggagcgggcccgggcggcgcgcgatcgaggtcgggtcgccgtccagcctgcagc       c.-1

          .         .         .         .         .         .       g.5137
 ATGAGCGCCCCCAGCGCGACCCCCATCTTCGCGCCCGGCGAGAACTGCAGCCCCGCGTGG       c.60
 M  S  A  P  S  A  T  P  I  F  A  P  G  E  N  C  S  P  A  W         p.20

          .         .         .         .         .         .       g.5197
 GGGGCGGCGCCCGCGGCCTACGACGCAGCGGACACGCACCTGCGCATCCTGGGCAAGCCG       c.120
 G  A  A  P  A  A  Y  D  A  A  D  T  H  L  R  I  L  G  K  P         p.40

          .         .         .         .         .         .       g.5257
 GTGATGGAGCGCTGGGAGACCCCCTATATGCACGCGCTGGCCGCCGCCGCCTCCTCCAAA       c.180
 V  M  E  R  W  E  T  P  Y  M  H  A  L  A  A  A  A  S  S  K         p.60

   | 02      .         .         .         .         .         .    g.6674
 G | GGGGCCGGGTCCTGGAGGTGGGCTTTGGCATGGCCATCGCAGCGTCAAAGGTGCAGGAG    c.240
 G |   G  R  V  L  E  V  G  F  G  M  A  I  A  A  S  K  V  Q  E      p.80

          .         .         .         .         .         .       g.6734
 GCGCCCATTGATGAGCATTGGATCATCGAGTGCAATGACGGCGTCTTCCAGCGGCTCCGG       c.300
 A  P  I  D  E  H  W  I  I  E  C  N  D  G  V  F  Q  R  L  R         p.100

          .         .        | 03.         .         .         .    g.6999
 GACTGGGCCCCACGGCAGACACACAAG | GTCATCCCCTTGAAAGGCCTGTGGGAGGATGTG    c.360
 D  W  A  P  R  Q  T  H  K   | V  I  P  L  K  G  L  W  E  D  V      p.120

          .         .         .  | 04      .         .         .    g.7387
 GCACCCACCCTGCCTGACGGTCACTTTGATG | GGATCCTGTACGACACGTACCCACTCTCG    c.420
 A  P  T  L  P  D  G  H  F  D  G |   I  L  Y  D  T  Y  P  L  S      p.140

          .         .         .          | 05        .         .    g.7548
 GAGGAGACCTGGCACACACACCAGTTCAACTTCATCAAG | AACCACGCCTTTCGCCTGCTG    c.480
 E  E  T  W  H  T  H  Q  F  N  F  I  K   | N  H  A  F  R  L  L      p.160

          .         .         .         .         .         .       g.7608
 AAGCCGGGGGGCGTCCTCACCTACTGCAACCTCACCTCCTGGGGGGAGCTGATGAAGTCC       c.540
 K  P  G  G  V  L  T  Y  C  N  L  T  S  W  G  E  L  M  K  S         p.180

          .         .         . | 06       .         .         .    g.9084
 AAGTACTCAGACATCACCATCATGTTTGAG | GAGACGCAGGTGCCCGCGCTGCTGGAGGCC    c.600
 K  Y  S  D  I  T  I  M  F  E   | E  T  Q  V  P  A  L  L  E  A      p.200

          .         .         .         .         .         .       g.9144
 GGCTTCCGGAGGGAGAACATCCGTACGGAGGTGATGGCGCTGGTCCCACCGGCCGACTGC       c.660
 G  F  R  R  E  N  I  R  T  E  V  M  A  L  V  P  P  A  D  C         p.220

          .         .         .         .         .                 g.9195
 CGCTACTACGCCTTCCCACAGATGATCACGCCCCTGGTGACCAAAGGCTGA                c.711
 R  Y  Y  A  F  P  Q  M  I  T  P  L  V  T  K  G  X                  p.236

          .         .         .         .         .         .       g.9255
 gcccccaccccggcccggccacacccatgccctcctccgtgccttcctggccgggagtcc       c.*60

          .         .         .         .         .         .       g.9315
 agggtgtcgcaccagccctgggctgatcccagctgtgtgtcaccagaagctttcccggct       c.*120

          .         .         .         .         .         .       g.9375
 tctctgtgaggggtcccaccagcccagggctgatcccagctgtgtgtcaccagcagcttt       c.*180

          .         .         .         .         .         .       g.9435
 cccagcttctctgtgagggtcactgctgcccactgcagggtccctgaggtgaagtaaacg       c.*240

          .         .         .         .         .         .       g.9495
 ccggcgctgggcttggccagtcggcagtgagcgtgcgactgttacttccagcggctgctc       c.*300

          .         .         .                                     g.9528
 cctcacctcccgcccatcccatggacacaggaa                                  c.*333

 (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 Guanidinoacetate N-methyltransferase 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.