mesoderm development candidate 2 (MESDC2) - coding DNA reference sequence

(used for variant description)

(last modified January 12, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_015154.1 in the MESDC2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000015.9, covering MESDC2 transcript NM_015154.1.

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

 (upstream sequence)
                                                   .                g.5013
                                                ggcgtgtgcaagg       c.-61

 .         .         .         .         .         .                g.5073
 cggggtccggcccgcgcaggtcgggtaagcgcgtctagggcgctgcgcggcgcagcgaaa       c.-1

          .         .         .         .         .         .       g.5133
 ATGGCGGCTTCCAGGTGGGCGCGCAAGGCCGTGGTCCTGCTTTGTGCCTCTGACCTGCTG       c.60
 M  A  A  S  R  W  A  R  K  A  V  V  L  L  C  A  S  D  L  L         p.20

          .         .         .         .         .         .       g.5193
 CTGCTGCTGCTACTGCTACCACCGCCTGGGTCCTGCGCGGCCGAAGGCTCGCCCGGGACG       c.120
 L  L  L  L  L  L  P  P  P  G  S  C  A  A  E  G  S  P  G  T         p.40

          .         .         .         .         .         .       g.5253
 CCCGACGAGTCTACCCCACCTCCCCGGAAGAAGAAGAAGGATATTCGCGATTACAATGAT       c.180
 P  D  E  S  T  P  P  P  R  K  K  K  K  D  I  R  D  Y  N  D         p.60

          .         .         .    | 02    .         .         .    g.12709
 GCAGACATGGCGCGTCTTCTGGAGCAATGGGAG | AAAGATGATGACATTGAAGAAGGAGAT    c.240
 A  D  M  A  R  L  L  E  Q  W  E   | K  D  D  D  I  E  E  G  D      p.80

          .         .         .         .         .         .       g.12769
 CTTCCAGAGCACAAGAGACCTTCAGCACCTGTCGACTTCTCAAAGATAGACCCAAGCAAG       c.300
 L  P  E  H  K  R  P  S  A  P  V  D  F  S  K  I  D  P  S  K         p.100

          .         .         .         .         .         .       g.12829
 CCTGAAAGCATATTGAAAATGACGAAAAAAGGGAAGACTCTCATGATGTTTGTCACTGTA       c.360
 P  E  S  I  L  K  M  T  K  K  G  K  T  L  M  M  F  V  T  V         p.120

          .         .         .         .         .         .       g.12889
 TCAGGAAGCCCTACTGAGAAGGAGACAGAGGAAATTACGAGCCTCTGGCAGGGCAGCCTT       c.420
 S  G  S  P  T  E  K  E  T  E  E  I  T  S  L  W  Q  G  S  L         p.140

          .         .       | 03 .         .         .         .    g.15421
 TTCAATGCCAACTATGACGTCCAGAG | GTTCATTGTGGGATCAGACCGTGCTATCTTCATG    c.480
 F  N  A  N  Y  D  V  Q  R  |  F  I  V  G  S  D  R  A  I  F  M      p.160

          .         .         .         .         .         .       g.15481
 CTTCGCGATGGGAGCTACGCCTGGGAGATCAAGGACTTTTTGGTCGGTCAAGACAGGTGT       c.540
 L  R  D  G  S  Y  A  W  E  I  K  D  F  L  V  G  Q  D  R  C         p.180

          .         .         .         .         .         .       g.15541
 GCTGATGTAACTCTGGAGGGCCAGGTGTACCCCGGCAAAGGAGGAGGAAGCAAAGAGAAA       c.600
 A  D  V  T  L  E  G  Q  V  Y  P  G  K  G  G  G  S  K  E  K         p.200

          .         .         .         .         .         .       g.15601
 AATAAAACAAAGCAAGACAAGGGCAAAAAAAAGAAGGAAGGAGATCTGAAATCTCGGTCT       c.660
 N  K  T  K  Q  D  K  G  K  K  K  K  E  G  D  L  K  S  R  S         p.220

          .         .         .         .                           g.15646
 TCCAAGGAAGAAAATCGAGCTGGGAATAAAAGAGAAGACCTGTGA                      c.705
 S  K  E  E  N  R  A  G  N  K  R  E  D  L  X                        p.234

          .         .         .         .         .         .       g.15706
 tggggcagcagtgacgcgctgtggggggacaggtggacgtggagagctctttgcccagct       c.*60

          .         .         .         .         .         .       g.15766
 cctggggtgggagtggtctcaggcaactgcacaccggatgacattctagtgtcttctaga       c.*120

          .         .         .         .         .         .       g.15826
 aagggtctgccacatgaccagtttgtggtcaaagaattactgcttaataggcttcaagta       c.*180

          .         .         .         .         .         .       g.15886
 agaagacagatgttttctaattaatactggacactgacaaattcatgtttactataaaat       c.*240

          .         .         .         .         .         .       g.15946
 ctccttacatggaaatgtgactgtgttgctttttcccatttacacttggtgagtcatcaa       c.*300

          .         .         .         .         .         .       g.16006
 ctctactgagattccactcccctccaagcacctgctgtgattgggtggcctgctctgatc       c.*360

          .         .         .         .         .         .       g.16066
 agatagcaaattctgatcagagaagactttaaaactcttgacttaattgagtaaactctt       c.*420

          .         .         .         .         .         .       g.16126
 catgccatatacatcattttcattatgttaaaggtaaaatatgctttgtgaactcagatg       c.*480

          .         .         .         .         .         .       g.16186
 tctgtagccaggaagccagggtgtgtaaatccaaaatctatgcaggaaatgcggagaata       c.*540

          .         .         .         .         .         .       g.16246
 gaaaatatgtcacttgaaatcctaagtagttttgaatttctttgacttgaatcttactca       c.*600

          .         .         .         .         .         .       g.16306
 tcagtaagagaactcttggtgtctgtcaggttttatgtggtctgtaaagttaggggttct       c.*660

          .         .         .         .         .         .       g.16366
 gttttgtttccttatttaggaaagagtactgctggtgtcgaggggttatatgttccattt       c.*720

          .         .         .         .         .         .       g.16426
 aatgtgacagttttaaaggatttaagtagggaatcagagtcctttgcagagtgtgacaga       c.*780

          .         .         .         .         .         .       g.16486
 cgactcaataacctcatttgtttctaaacatttttctttgataaagtgcctaaatctgtg       c.*840

          .         .         .         .         .         .       g.16546
 ctttcgtatagagtaacatgatgtgctactgttgatgtctgattttgccgttcatgttag       c.*900

          .         .         .         .         .         .       g.16606
 agcctactgtgaataagagttagaacatttatatacagatgtcatttctaagaactaaaa       c.*960

          .         .         .         .         .         .       g.16666
 ttctttgggaaaaaccctcaattgtgattttaataaattaaaagtagcacattacatggt       c.*1020

          .         .         .         .         .         .       g.16726
 tagaaaatgtcagtgttaaagaatggtacaaagtgaaaagtgtatccctctcttgccgcc       c.*1080

          .         .         .         .         .         .       g.16786
 ggtggtagcttgtcccagtggaagctgctgttaacaatttgtgcccccacatccccctcc       c.*1140

          .         .         .         .         .         .       g.16846
 ctgcccatccaccaaaaaaaagtacatttacttatgtaaatgtacttatggtgatgtatg       c.*1200

          .         .         .         .         .         .       g.16906
 tttgttttggcctcacagcatctgtttccccttaatttggtagctgctcacatttccctc       c.*1260

          .         .         .         .         .         .       g.16966
 gaaagaaccacaccctctgcattctcagttctctgctttggatgggacatttgccctgca       c.*1320

          .         .         .         .         .         .       g.17026
 gtccccccaccctccaggccatgccctctccagggtgaggcctgtgtgatctaccgtact       c.*1380

          .         .         .         .         .         .       g.17086
 agggtactaggccctgaaagaggcttttcttgttcctcctgcatcttgaacctggagcgg       c.*1440

          .         .         .         .         .         .       g.17146
 gagctgttgtaggccccgcccttggagaagagaactgtctgacagtggggagagagcgcc       c.*1500

          .         .         .         .         .         .       g.17206
 acaccctggtggcataaacgagtccctgaatcatgccgtggctgaaccaagccctgtctg       c.*1560

          .         .         .         .         .         .       g.17266
 tgggctttttctgttgtactcagggcagtttgatggggttactgtcctgcatagccataa       c.*1620

          .         .         .         .         .         .       g.17326
 tggcccagtataaagcagctgttttgatgagataattgctttaattaagcaaaaggtagc       c.*1680

          .         .         .         .         .         .       g.17386
 aaagctttcactccgccctgtaccttctgtttccacttaggagccttcccatgtcagaat       c.*1740

          .         .         .         .         .         .       g.17446
 gtgcagatctgtctcattgtttcctgtgcagtgtgcccccacttcacccagtagtttctg       c.*1800

          .         .         .         .         .         .       g.17506
 tgtgtctgttatgtactaggtactacaaggtgccaggacggtgtagatacagcctctgct       c.*1860

          .         .         .         .         .         .       g.17566
 atcgtaaaactcaatgattcggtgggggaagacaaatgtcagtaatgtacaaagtaaaat       c.*1920

          .         .         .         .         .         .       g.17626
 ggcagctgttagaagtatgaaaggggcagggtagggggaggtagaatcttccctgaccag       c.*1980

          .         .         .         .         .         .       g.17686
 gttaagaaaaccagaggccttctctgagggcaagaggaggagaggagaaatagagtaagg       c.*2040

          .         .         .         .         .         .       g.17746
 caggcagaggaaacagtctgagctaagaccctgtggctagaagtggcagagggagaggca       c.*2100

          .         .         .         .         .         .       g.17806
 gcaggaaggccagcggggaggctggggcccagtgcaggcccaggttggaggagcgtagca       c.*2160

          .         .         .         .         .         .       g.17866
 catggagtttggtaggagtttgggacgccctggtggatcttaattgtgatggggtgggtg       c.*2220

          .         .         .         .         .         .       g.17926
 tgaaaggcagtccaggttgcactggttgcacaggagaagtgatcagaagaggaccccagc       c.*2280

          .         .         .         .         .         .       g.17986
 aggtgtgagccgtgagctgggaggtgcttcagtagtgcaggccatagctgaaggtgtcct       c.*2340

          .         .         .         .         .         .       g.18046
 acatcagcagggtgatggtgaggtttgaaccactgtttcactgcatagtccctgctgatg       c.*2400

          .         .         .         .         .         .       g.18106
 gacacttgagtgttcagattttttgctggtatattcagtgctgcagtggacattttcata       c.*2460

          .         .         .         .         .         .       g.18166
 caaaatatttcggtacacttttgtttatatctgaaaggtaaattcctagcagtagaatta       c.*2520

          .         .         .         .         .         .       g.18226
 ttagagcaaacggaatttaacattttggtgtgtattgccaaattgccctcccaagtggtt       c.*2580

          .         .         .         .         .         .       g.18286
 tagtcagcttacccttgccaacaatagatctatccttgccagccttgggcatcacattta       c.*2640

          .         .         .         .         .         .       g.18346
 ccagtttaatagattgtaaaaccatatcttaattggctaccctgaagccaccatactgga       c.*2700

          .         .         .         .         .         .       g.18406
 gaggctgcgtacagtgtttcacgtagagagagggatacccaggaggcccacctgctccaa       c.*2760

          .         .         .         .         .         .       g.18466
 ccccagctgcatgagtcttcccagcccaggcacagacatgtggataagatttaaacattt       c.*2820

          .         .         .         .         .         .       g.18526
 ccagccccagccttcaagcaatcctagttgacactgaggggagccaacataagctgagct       c.*2880

          .         .         .         .         .         .       g.18586
 gagaaacagtctgcccagtctgcagattcatgagcaaaagaaatgttgggctgggtacag       c.*2940

          .         .         .         .         .         .       g.18646
 tggctcacgcctgtaatcccagtactttgggaggccgaggtgggtggatcagttgaggtc       c.*3000

          .         .         .         .         .         .       g.18706
 aggagtttgagaccagcctggccaacatggtgaagccctgtctctactaaaaattagccg       c.*3060

          .         .         .         .         .         .       g.18766
 agtgtggtggtgcgggcctgtaatcccagctactcaggtggctgaggcaggagaatggct       c.*3120

          .         .         .         .         .         .       g.18826
 tgaacccgggaggcggaggttgcagtgagccaagatcaggccactgcactccagcctgga       c.*3180

          .         .         .         .         .         .       g.18886
 tgacgggatgagactctgtctcaaaaaaacgaaacaaaaattttttaagagaaatgtcat       c.*3240

          .         .         .         .         .         .       g.18946
 ttgtttttgtttttgagacagggtctcactctgttgccctcactagagtgcagtaggatc       c.*3300

          .         .         .         .         .         .       g.19006
 acggctcactgaagtctctacctaccggctcaattgatcttcccaccacagcctcccaaa       c.*3360

          .         .         .         .         .         .       g.19066
 tagctgggagaaatgtcctgtttttaatgaatttgtcttcctttttgtcttgtttgtttt       c.*3420

          .         .         .         .                           g.19111
 aatatctagtgatctaataaatttggatgatatcttttgactatc                      c.*3465

 (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 Mesoderm development candidate 2 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.