amelogenin, X-linked (AMELX) - coding DNA reference sequence

(used for variant description)

(last modified March 5, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_182680.1 in the AMELX gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012040.1, covering AMELX transcript NM_182680.1.

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

 (upstream sequence)
                                                                    g.5008
                                                     aaaggatc       c.-61

 .         .         .         .         .        | 02.             g.6376
 aagcatccctgagtttcaaacagaaacttgcactgaatacattcaaag | aaccatcaagaa    c.-1

          .         .         .         .         .     | 03   .    g.8372
 ATGGGGACCTGGATTTTATTTGCCTGCCTCCTGGGAGCAGCTTTTGCCATGCCT | CTACCA    c.60
 M  G  T  W  I  L  F  A  C  L  L  G  A  A  F  A  M  P   | L  P      p.20

          .         .         .         .   | 04     .         .    g.9708
 CCTCATCCTGGGCACCCTGGTTATATCAACTTCAGCTATGAG | AACTCACATTCTCAGGCT    c.120
 P  H  P  G  H  P  G  Y  I  N  F  S  Y  E   | N  S  H  S  Q  A      p.40

          .         .     | 05   .         .         .         .    g.9859
 ATCAATGTTGACAGGACTGCATTA | GTGCTTACCCCTTTGAAGTGGTACCAGAGCATAAGG    c.180
 I  N  V  D  R  T  A  L   | V  L  T  P  L  K  W  Y  Q  S  I  R      p.60

        | 06 .         .         .         .         .         .    g.10189
 CCACCG | TACCCTTCCTATGGTTACGAGCCCATGGGTGGATGGCTGCACCACCAAATCATC    c.240
 P  P   | Y  P  S  Y  G  Y  E  P  M  G  G  W  L  H  H  Q  I  I      p.80

          .         .         .         .         .         .       g.10249
 CCCGTGCTGTCCCAACAGCACCCCCCGACTCACACCCTGCAGCCTCATCACCACATCCCA       c.300
 P  V  L  S  Q  Q  H  P  P  T  H  T  L  Q  P  H  H  H  I  P         p.100

          .         .         .         .         .         .       g.10309
 GTGGTGCCAGCTCAGCAGCCCGTGATCCCCCAGCAACCAATGATGCCCGTTCCTGGCCAA       c.360
 V  V  P  A  Q  Q  P  V  I  P  Q  Q  P  M  M  P  V  P  G  Q         p.120

          .         .         .         .         .         .       g.10369
 CACTCCATGACTCCAATCCAACACCACCAGCCAAACCTCCCTCCGCCCGCCCAGCAGCCC       c.420
 H  S  M  T  P  I  Q  H  H  Q  P  N  L  P  P  P  A  Q  Q  P         p.140

          .         .         .         .         .         .       g.10429
 TACCAGCCCCAGCCTGTTCAGCCACAGCCTCACCAGCCCATGCAGCCCCAGCCACCTGTG       c.480
 Y  Q  P  Q  P  V  Q  P  Q  P  H  Q  P  M  Q  P  Q  P  P  V         p.160

          .         .         .         .         .         .       g.10489
 CACCCCATGCAGCCCCTGCCGCCACAGCCACCTCTGCCTCCGATGTTCCCCATGCAGCCC       c.540
 H  P  M  Q  P  L  P  P  Q  P  P  L  P  P  M  F  P  M  Q  P         p.180

          .         .         .         .         .         .       g.10549
 CTGCCTCCCATGCTTCCTGATCTGACTCTGGAAGCTTGGCCATCAACAGACAAGACCAAG       c.600
 L  P  P  M  L  P  D  L  T  L  E  A  W  P  S  T  D  K  T  K         p.200

          .   | 07                                                  g.12242
 CGGGAGGAAGTG | GATTAA                                              c.618
 R  E  E  V   | D  X                                                p.205

          .         .         .         .         .         .       g.12302
 aagatcagaagatgagaggggaatgaatacttcagatgctttcaggagtgacacaagaac       c.*60

          .         .         .         .         .         .       g.12362
 acaatgatttttgcttataatcactttacttagcaaattctgtaactaaaaaagtaccat       c.*120

          .         .                                               g.12391
 tagcagacaataaaatgcattaaaaatca                                      c.*149

 (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 Amelogenin, X-linked 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.