matrix metallopeptidase 20 (MMP20) - coding DNA reference sequence

(used for variant description)

(last modified March 3, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_004771.3 in the MMP20 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012151.1, covering MMP20 transcript NM_004771.3.

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

 (upstream sequence)
                                                   .                g.5013
                                                ctactgtgagggg       c.-1

          .         .         .         .         .         .       g.5073
 ATGAAGGTGCTCCCTGCATCTGGCCTTGCTGTCTTCCTCATCATGGCTTTGAAGTTTTCC       c.60
 M  K  V  L  P  A  S  G  L  A  V  F  L  I  M  A  L  K  F  S         p.20

          .         .         .         .         .         .       g.5133
 ACTGCAGCCCCCTCCCTAGTTGCAGCCTCCCCCAGGACCTGGAGGAACAACTACCGCCTC       c.120
 T  A  A  P  S  L  V  A  A  S  P  R  T  W  R  N  N  Y  R  L         p.40

        | 02 .         .         .         .         .         .    g.13327
 GCACAG | GCGTATCTTGACAAATATTACACAAATAAAGAAGGACACCAGATTGGTGAGATG    c.180
 A  Q   | A  Y  L  D  K  Y  Y  T  N  K  E  G  H  Q  I  G  E  M      p.60

          .         .         .         .         .         .       g.13387
 GTTGCAAGAGGAAGCAATTCCATGATAAGGAAGATTAAGGAGCTACAAGCGTTCTTTGGC       c.240
 V  A  R  G  S  N  S  M  I  R  K  I  K  E  L  Q  A  F  F  G         p.80

          .         .         .         .         .         .       g.13447
 CTCCAAGTCACCGGGAAGTTAGACCAGACCACAATGAACGTGATCAAGAAGCCTCGCTGT       c.300
 L  Q  V  T  G  K  L  D  Q  T  T  M  N  V  I  K  K  P  R  C         p.100

          .         .         .         .         .         .       g.13507
 GGAGTTCCTGATGTGGCCAATTATCGCCTCTTCCCTGGTGAACCCAAATGGAAAAAAAAT       c.360
 G  V  P  D  V  A  N  Y  R  L  F  P  G  E  P  K  W  K  K  N         p.120

          .     | 03   .         .         .         .         .    g.18475
 ACTTTGACATACAG | AATATCTAAATACACACCTTCCATGAGTTCTGTCGAGGTGGACAAA    c.420
 T  L  T  Y  R  |  I  S  K  Y  T  P  S  M  S  S  V  E  V  D  K      p.140

          .         .         .         .         .         .       g.18535
 GCAGTGGAGATGGCCTTGCAGGCCTGGAGTAGCGCCGTCCCTCTGAGCTTTGTCAGAATA       c.480
 A  V  E  M  A  L  Q  A  W  S  S  A  V  P  L  S  F  V  R  I         p.160

          .         .         .         .    | 04    .         .    g.20319
 AACTCAGGAGAAGCGGATATTATGATATCTTTTGAAAATGGAG | ATCACGGGGATTCCTAT    c.540
 N  S  G  E  A  D  I  M  I  S  F  E  N  G  D |   H  G  D  S  Y      p.180

          .         .         .         .         .         .       g.20379
 CCATTCGATGGGCCTCGGGGGACTCTAGCCCATGCATTTGCTCCTGGAGAAGGCCTGGGA       c.600
 P  F  D  G  P  R  G  T  L  A  H  A  F  A  P  G  E  G  L  G         p.200

          .         .         .         .          | 05        .    g.21245
 GGAGATACACATTTCGACAATGCTGAGAAGTGGACTATGGGAACGAATG | GTTTTAATTTG    c.660
 G  D  T  H  F  D  N  A  E  K  W  T  M  G  T  N  G |   F  N  L      p.220

          .         .         .         .         .         .       g.21305
 TTTACCGTTGCTGCTCATGAATTTGGCCATGCCCTGGGCCTGGCCCATTCCACAGACCCA       c.720
 F  T  V  A  A  H  E  F  G  H  A  L  G  L  A  H  S  T  D  P         p.240

          .         .         .         .         .         .       g.21365
 TCAGCACTGATGTACCCAACTTATAAGTACAAGAATCCCTATGGATTCCACCTCCCCAAA       c.780
 S  A  L  M  Y  P  T  Y  K  Y  K  N  P  Y  G  F  H  L  P  K         p.260

          .         .         .  | 06      .         .         .    g.23685
 GATGATGTGAAAGGGATCCAGGCATTATACG | GACCTCGGAAAGTATTCCTGGGGAAGCCC    c.840
 D  D  V  K  G  I  Q  A  L  Y  G |   P  R  K  V  F  L  G  K  P      p.280

          .         .         .         .         .         .       g.23745
 ACTCTGCCCCATGCCCCCCATCACAAGCCATCCATCCCTGACCTCTGTGACTCCAGCTCA       c.900
 T  L  P  H  A  P  H  H  K  P  S  I  P  D  L  C  D  S  S  S         p.300

          .         .         .         .         .    | 07    .    g.35582
 TCCTTTGACGCTGTGACAATGCTGGGGAAGGAGCTCCTGCTCTTCAAGGACCG | GATTTTC    c.960
 S  F  D  A  V  T  M  L  G  K  E  L  L  L  F  K  D  R  |  I  F      p.320

          .         .         .         .         .         .       g.35642
 TGGAGACGGCAGGTTCACTTGCGGACAGGAATTCGGCCCAGCACTATTACCAGCTCCTTC       c.1020
 W  R  R  Q  V  H  L  R  T  G  I  R  P  S  T  I  T  S  S  F         p.340

          .         .         .         .         .         .       g.35702
 CCCCAGCTCATGTCCAATGTGGATGCAGCTTACGAAGTGGCTGAGAGGGGCACTGCTTAC       c.1080
 P  Q  L  M  S  N  V  D  A  A  Y  E  V  A  E  R  G  T  A  Y         p.360

          . | 08       .         .         .         .         .    g.36787
 TTCTTCAAAG | GTCCCCACTACTGGATAACAAGAGGATTCCAAATGCAAGGTCCTCCTCGG    c.1140
 F  F  K  G |   P  H  Y  W  I  T  R  G  F  Q  M  Q  G  P  P  R      p.380

          .         .         .         .         .         .       g.36847
 ACTATTTATGACTTTGGATTTCCAAGGCACGTGCAGCAAATAGATGCTGCTGTCTACCTC       c.1200
 T  I  Y  D  F  G  F  P  R  H  V  Q  Q  I  D  A  A  V  Y  L         p.400

          .         .         .         .        | 09.         .    g.51203
 AGGGAGCCACAGAAGACCCTTTTCTTTGTGGGAGATGAATACTACAG | CTACGACGAAAGG    c.1260
 R  E  P  Q  K  T  L  F  F  V  G  D  E  Y  Y  S  |  Y  D  E  R      p.420

          .         .         .         .         .         .       g.51263
 AAAAGGAAAATGGAAAAAGACTATCCAAAGAATACTGAAGAAGAATTTTCAGGAGTAAAT       c.1320
 K  R  K  M  E  K  D  Y  P  K  N  T  E  E  E  F  S  G  V  N         p.440

          .         .         .  | 10      .         .         .    g.52935
 GGCCAAATCGATGCTGCTGTAGAATTAAATG | GCTACATTTACTTCTTTTCAGGACCAAAA    c.1380
 G  Q  I  D  A  A  V  E  L  N  G |   Y  I  Y  F  F  S  G  P  K      p.460

          .         .         .         .         .         .       g.52995
 ACATACAAGTATGACACAGAGAAGGAAGATGTGGTTAGTGTGGTGAAATCTAGTTCCTGG       c.1440
 T  Y  K  Y  D  T  E  K  E  D  V  V  S  V  V  K  S  S  S  W         p.480

          .                                                         g.53007
 ATTGGTTGCTAA                                                       c.1452
 I  G  C  X                                                         p.483

          .         .         .         .         .         .       g.53067
 atagaaaagcctagtcttctcaagcaatgaggatgactacaagcagcctctaactggatc       c.*60

          .         .         .         .         .         .       g.53127
 ttaaggactaaagcagaatgtaggagagggattcttccaaaggccttcaaatcaaattag       c.*120

          .         .         .         .         .         .       g.53187
 aattcactgagaataataatacttccaatttttttcatagttgtataatcagaatttcaa       c.*180

          .         .         .         .         .         .       g.53247
 tccacattagaaaagtttttatatgggcaactttatgcgaaatccaaatcaacacaatgc       c.*240

          .         .         .         .         .         .       g.53307
 actctgcagttagacaccattattttttcttacctaatatactgaagcagattgatccgt       c.*300

          .         .         .         .         .         .       g.53367
 ttgatttttatttccaggaggaagactagtggtggattccatgacatatattgtaattct       c.*360

          .         .         .         .         .         .       g.53427
 tttcataggaaatgtcattacagtatgaattataattatttacaagcaatggcttttgtg       c.*420

          .         .         .         .         .         .       g.53487
 gccatcatttggccatcatttgttataataaatataaatttcccaatttttacttaaaag       c.*480

          .                                                         g.53498
 acatcacaaca                                                        c.*491

 (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 Matrix metallopeptidase 20 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.