methyltransferase like 5 (METTL5) - coding DNA reference sequence

(used for variant description)

(last modified October 28, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_014168.2 in the METTL5 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000002.11, covering METTL5 transcript NM_014168.2.

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

 (upstream sequence)
                                                                    g.5006
                                                       cctgag       c.-241

 .         .         .         .         .         .                g.5066
 gctgctccagcagtgcgccgccgccgtctcctggggcggcttgggttagccgggaggtgg       c.-181

 .         .         .         .         .         .                g.5126
 gtcagaggctcgccccgtgccctgcgtccgggcgtctccttagggcgcgtcttcgggtcc       c.-121

 .         .         .         .         .         .                g.5186
 ggccagcggtgctgaaaaagggagaaggttgggggtagggaggaaacaagatcccagttc       c.-61

 .         .         .         .         .         .                g.5246
 aatagatttctccgcagatcctgtgccttcaaaccctacgagtccatactttaaaacaaa       c.-1

          .         .         .         .         .         .       g.5306
 ATGAAGAAAGTAAGGCTTAAGGAACTAGAGAGTCGCCTGCAACAAGTGGATGGATTTGAA       c.60
 M  K  K  V  R  L  K  E  L  E  S  R  L  Q  Q  V  D  G  F  E         p.20

          .         .         .         .          | 02        .    g.7797
 AAGCCCAAGCTACTTCTGGAACAGTATCCTACCAGGCCGCACATTGCAG | CATGTATGCTC    c.120
 K  P  K  L  L  L  E  Q  Y  P  T  R  P  H  I  A  A |   C  M  L      p.40

          .         .         .         .         .         .       g.7857
 TATACAATCCATAACACTTATGATGACATTGAAAATAAAGTCGTTGCAGATCTAGGATGT       c.180
 Y  T  I  H  N  T  Y  D  D  I  E  N  K  V  V  A  D  L  G  C         p.60

          .         .         .         .     | 03   .         .    g.8586
 GGTTGTGGAGTACTTAGCATCGGAACTGCAATGTTAGGAGCAGG | GTTGTGTGTTGGATTT    c.240
 G  C  G  V  L  S  I  G  T  A  M  L  G  A  G  |  L  C  V  G  F      p.80

          .         .         .         .         .         .       g.8646
 GACATAGATGAAGACGCATTGGAAATATTTAATAGGAATGCAGAAGAGTTTGAGTTAACA       c.300
 D  I  D  E  D  A  L  E  I  F  N  R  N  A  E  E  F  E  L  T         p.100

          .         .         .         .         .         .       g.8706
 AATATTGACATGGTTCAATGTGATGTGTGCTTATTATCTAACAGAATGTCCAAGTCATTC       c.360
 N  I  D  M  V  Q  C  D  V  C  L  L  S  N  R  M  S  K  S  F         p.120

          .         .         .         .       | 04 .         .    g.10214
 GATACAGTAATTATGAATCCTCCCTTTGGGACCAAAAATAATAAAG | GGACAGATATGGCT    c.420
 D  T  V  I  M  N  P  P  F  G  T  K  N  N  K  G |   T  D  M  A      p.140

          .         .         .         .         .         .       g.10274
 TTTCTAAAGACTGCTTTGGAAATGGCAAGAACAGCAGTATATTCCTTACACAAATCCTCA       c.480
 F  L  K  T  A  L  E  M  A  R  T  A  V  Y  S  L  H  K  S  S         p.160

           | 05        .         .         .         .         .    g.14366
 ACTAGAGAA | CATGTTCAAAAGAAAGCTGCAGAATGGAAAATCAAGATAGATATTATAGCA    c.540
 T  R  E   | H  V  Q  K  K  A  A  E  W  K  I  K  I  D  I  I  A      p.180

   | 06      .         .         .         .         .  | 07      . g.17994
 G | AACTTCGATATGACCTGCCAGCATCATACAAGTTTCACAAAAAGAAATCA | GTGGACATT c.600
 E |   L  R  Y  D  L  P  A  S  Y  K  F  H  K  K  K  S   | V  D  I   p.200

          .         .         .                                     g.18024
 GAAGTGGACCTAATTCGGTTTTCCTTTTAA                                     c.630
 E  V  D  L  I  R  F  S  F  X                                       p.209

          .         .         .         .         .         .       g.18084
 aagccccgcaaacaaaagtcgtttaaaacctatttaaaatgaataaaaaattggtttact       c.*60

                                                                    g.18087
 aaa                                                                c.*63

 (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 Methyltransferase like 5 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.