Myotubularin related protein 14 (MTMR14) - coding DNA reference sequence

(used for mutation description)

(last modified May 30, 2010)


This file was created to facilitate the description of sequence variants in the MTMR14 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_017068.1, covering MTMR14 transcript NM_001077525.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5031
                              aaacatccggcgggacggggcggggccggaa       c.-121

 .         .         .         .         .         .                g.5091
 gtggaagtggaagtagaaggcggtggctgaggcggttccggaggttctagtgtcggagtt       c.-61

 .         .         .         .         .         .                g.5151
 gggtgcaggcaggtgccatgggcccgcttgaggcacactgaggggacgcggggctgggcc       c.-1

          .         .         .         .         .         .       g.5211
 ATGGCCGGCGCTCGGGCCGCCGCCGCCGCTGCCTCGGCGGGGTCCTCGGCCTCTTCAGGC       c.60
 M  A  G  A  R  A  A  A  A  A  A  S  A  G  S  S  A  S  S  G         p.20

          .         .         .         .         .         .       g.5271
 AACCAGCCGCCTCAGGAGCTGGGGCTTGGGGAGCTGCTGGAGGAGTTCTCCCGGACTCAG       c.120
 N  Q  P  P  Q  E  L  G  L  G  E  L  L  E  E  F  S  R  T  Q         p.40

          .         .         .          | 02        .         .    g.9209
 TACCGGGCCAAGGATGGCAGCGGGACCGGCGGCTCTAAG | GTTGAGCGCATTGAGAAGAGA    c.180
 Y  R  A  K  D  G  S  G  T  G  G  S  K   | V  E  R  I  E  K  R      p.60

          .         .         .         .         .         .       g.9269
 TGTCTGGAGCTGTTTGGCCGAGACTACTGTTTCAGCGTGATTCCAAACACGAATGGGGAT       c.240
 C  L  E  L  F  G  R  D  Y  C  F  S  V  I  P  N  T  N  G  D         p.80

          .         .         .         .         .         .       g.9329
 ATCTGTGGCCACTATCCCCGGCACATCGTGTTCCTGGAGTATGAGAGTTCTGAGAAGGAG       c.300
 I  C  G  H  Y  P  R  H  I  V  F  L  E  Y  E  S  S  E  K  E         p.100

          | 03         .         .         .         .         .    g.17886
 AAAGACAC | GTTTGAGAGTACCGTACAGGTGAGCAAGTTGCAAGACCTCATCCACCGCAGC    c.360
 K  D  T  |  F  E  S  T  V  Q  V  S  K  L  Q  D  L  I  H  R  S      p.120

          .         .         .         .         .        | 04.    g.24289
 AAGATGGCCCGGTGCAGAGGACGGTTTGTCTGCCCAGTAATCCTGTTCAAGGGCAAG | CAC    c.420
 K  M  A  R  C  R  G  R  F  V  C  P  V  I  L  F  K  G  K   | H      p.140

          .         .         .         .         .         .       g.24349
 ATTTGCAGGTCGGCCACACTGGCTGGATGGGGAGAGCTGTATGGACGCTCAGGCTACAAC       c.480
 I  C  R  S  A  T  L  A  G  W  G  E  L  Y  G  R  S  G  Y  N         p.160

          .    | 05    .         .         .         .         .    g.25046
 TATTTTTTCTCAG | GGGGTGCAGATGATGCCTGGGCAGATGTGGAGGACGTCACGGAGGAG    c.540
 Y  F  F  S  G |   G  A  D  D  A  W  A  D  V  E  D  V  T  E  E      p.180

          .     | 06   .         .         .         .         .    g.26661
 GACTGTGCTCTTCG | AAGTGGTGACACGCATCTTTTTGATAAGGTCAGAGGCTATGACATC    c.600
 D  C  A  L  R  |  S  G  D  T  H  L  F  D  K  V  R  G  Y  D  I      p.200

          .         .         .         .         .         .       g.26721
 AAGCTGCTTCGATACCTGTCAGTCAAATACATCTGTGACCTGATGGTGGAGAACAAGAAG       c.660
 K  L  L  R  Y  L  S  V  K  Y  I  C  D  L  M  V  E  N  K  K         p.220

          .        | 07.         .         .         .         .    g.28295
 GTGAAGTTTGGCATGAA | TGTAACCTCCTCTGAGAAGGTGGACAAAGCCCAGCGCTATGCC    c.720
 V  K  F  G  M  N  |  V  T  S  S  E  K  V  D  K  A  Q  R  Y  A      p.240

          .         .         .  | 08      .         .         .    g.32913
 GACTTCACTCTCCTCTCCATCCCGTATCCAG | GCTGTGAATTTTTCAAGGAATATAAAGAT    c.780
 D  F  T  L  L  S  I  P  Y  P  G |   C  E  F  F  K  E  Y  K  D      p.260

          .         .         .         .   | 09     .         .    g.33569
 CGGGATTACATGGCAGAAGGGCTCATATTTAACTGGAAGCAG | GACTACGTTGATGCCCCA    c.840
 R  D  Y  M  A  E  G  L  I  F  N  W  K  Q   | D  Y  V  D  A  P      p.280

          .         .         .         .         .        | 10.    g.38748
 TTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAG | TGT    c.900
 L  S  I  P  D  F  L  T  H  S  L  N  I  D  W  S  Q  Y  Q   | C      p.300

          .         .         .         .         .         .       g.38808
 TGGGATCTGGTGCAACAAACACAAAACTACCTGAAGCTGCTGCTTTCCTTAGTTAACAGT       c.960
 W  D  L  V  Q  Q  T  Q  N  Y  L  K  L  L  L  S  L  V  N  S         p.320

      | 11   .         .         .         .         .         .    g.40208
 GATG | ATGACAGCGGGCTGCTGGTACACTGTATCTCAGGCTGGGATCGGACCCCCCTCTTC    c.1020
 D  D |   D  S  G  L  L  V  H  C  I  S  G  W  D  R  T  P  L  F      p.340

          .         .         . | 12       .         .         .    g.40485
 ATCTCCCTCCTGCGCCTTTCCTTGTGGGCT | GATGGGCTCATCCACACGTCCCTGAAGCCC    c.1080
 I  S  L  L  R  L  S  L  W  A   | D  G  L  I  H  T  S  L  K  P      p.360

          .         .         .         .        | 13.         .    g.40791
 ACTGAGATCCTCTACCTCACTGTGGCCTATGACTGGTTCCTCTTCGG | GCACATGTTGGTA    c.1140
 T  E  I  L  Y  L  T  V  A  Y  D  W  F  L  F  G  |  H  M  L  V      p.380

          .         .     | 14   .         .         .         .    g.43424
 GATCGGCTCAGCAAAGGGGAGGAG | ATTTTCTTCTTCTGCTTCAATTTTTTGAAGCATATT    c.1200
 D  R  L  S  K  G  E  E   | I  F  F  F  C  F  N  F  L  K  H  I      p.400

          .         .         .      | 15  .         .         .    g.44288
 ACCTCCGAGGAGTTCTCTGCTCTGAAGACCCAGAG | GAGGAAGAGTTTGCCAGCCCGGGAT    c.1260
 T  S  E  E  F  S  A  L  K  T  Q  R  |  R  K  S  L  P  A  R  D      p.420

          .         .         .     | 16   .         .         .    g.44537
 GGAGGCTTCACCCTGGAAGACATCTGCATGCTGA | GACGAAAGGACCGTGGCAGCACCACC    c.1320
 G  G  F  T  L  E  D  I  C  M  L  R |   R  K  D  R  G  S  T  T      p.440

          .         .         .         .         .         .       g.44597
 AGCCTTGGCAGCGACTTCTCCCTGGTCATGGAGAGTTCCCCAGGAGCCACTGGGAGCTTC       c.1380
 S  L  G  S  D  F  S  L  V  M  E  S  S  P  G  A  T  G  S  F         p.460

          .         .         .         .         .    | 17    .    g.45538
 ACCTATGAGGCCGTGGAGCTGGTCCCAGCAGGAGCGCCAACTCAGGCAGCTTG | GAGGAAG    c.1440
 T  Y  E  A  V  E  L  V  P  A  G  A  P  T  Q  A  A  W  |  R  K      p.480

          .         .         .         .         .         .       g.45598
 AGCCACTCATCCTCTCCACAGAGTGTCCTCTGGAACCGGCCACAACCCTCAGAGGACCGC       c.1500
 S  H  S  S  S  P  Q  S  V  L  W  N  R  P  Q  P  S  E  D  R         p.500

          .         .         .         .         .         .       g.45658
 TTGCCTTCCCAGCAGGGGCTGGCGGAAGCCAGGTCTTCCAGCTCCTCTTCCTCAAACCAT       c.1560
 L  P  S  Q  Q  G  L  A  E  A  R  S  S  S  S  S  S  S  N  H         p.520

          .         .         .         .         .    | 18    .    g.53285
 TCTGATAACTTTTTCAGGATGGGTAGCAGTCCCCTGGAGGTCCCCAAACCCAG | ATCAGTG    c.1620
 S  D  N  F  F  R  M  G  S  S  P  L  E  V  P  K  P  R  |  S  V      p.540

          .         .         .         .         .         .       g.53345
 GACCATCCCCTGCCCGGATCCTCTCTCTCCACAGACTATGGCAGCTGGCAGATGGTAACG       c.1680
 D  H  P  L  P  G  S  S  L  S  T  D  Y  G  S  W  Q  M  V  T         p.560

          .         .         .         .         .         .       g.53405
 GGCTGTGGCAGTATTCAGGAGCGGGCTGTCCTGCACACAGACTCCTCTCTCCCTTTCAGC       c.1740
 G  C  G  S  I  Q  E  R  A  V  L  H  T  D  S  S  L  P  F  S         p.580

          .         .          | 19        .         .         .    g.57388
 TTCCCGGATGAGCTCCCTAACAGTTGTCT | GCTTGCAGCCCTGAGTGATCGAGAGACTCGG    c.1800
 F  P  D  E  L  P  N  S  C  L  |  L  A  A  L  S  D  R  E  T  R      p.600

          .         .         .         .         .         .       g.57448
 CTGCAGGAGGTGCGCTCAGCCTTCTTGGCTGCGTACAGCAGCACAGTGGGGCTTCGGGCA       c.1860
 L  Q  E  V  R  S  A  F  L  A  A  Y  S  S  T  V  G  L  R  A         p.620

          .         .         .         .         .         .       g.57508
 GTAGCCCCCAGTCCTTCCGGTGCCATCGGGGGCCTGCTGGAGCAATTTGCCCGTGGTGTT       c.1920
 V  A  P  S  P  S  G  A  I  G  G  L  L  E  Q  F  A  R  G  V         p.640

          .         .         .                                     g.57541
 GGACTCCGGAGCATCAGCAGCAATGCCTTGTGA                                  c.1953
 G  L  R  S  I  S  S  N  A  L  X                                    p.650

          .         .         .         .         .         .       g.57601
 agaagccagcccatgacattttcctgctcctctctcagctgagcccttagcagagaatca       c.*60

          .         .         .         .         .         .       g.57661
 aagccatgcctggccgaaggggtacttccaggtcaggggaaatttcagtcccccatctcc       c.*120

          .         .         .         .         .         .       g.57721
 atcatgaacatggcagccccaaagctgagcaaggccaaagacagggttttccaaccccca       c.*180

          .         .         .         .         .         .       g.57781
 gcctcttgactggtgaccaccaccccttcttgtcactgtctcccacccaccccatctttg       c.*240

          .         .         .         .         .         .       g.57841
 ctgggattcccatcaactctcagaactgtgtggggtttccctggggccttgtggaagcca       c.*300

          .         .         .         .         .         .       g.57901
 tgacttcacaaagaccctacctgtcagttcttgtttctggggaggagggatcacctgcac       c.*360

          .         .         .         .         .         .       g.57961
 tgagaatgaggcagtttgacacagatcacaaaataaaatcaaagtctttttgaatagcca       c.*420

                                                                    g.57962
 c                                                                  c.*421

 (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 10th nucleotide is indicated by a "." above the sequence. The Myotubularin related protein 14 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

Powered by LOVD v.2.0 Build 26
©2004-2010 Leiden University Medical Center