Myozenin 2 (MYOZ2) - coding DNA reference sequence

(used for mutation description)

(last modified April 16, 2012)


This file was created to facilitate the description of sequence variants in the MYOZ2 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_029747.1, covering MYOZ2 transcript NM_016599.4.

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5033
                            atatagccagttgatgtcagctgaatgccagtc       c.-181

 .         .         .         .         .         .                g.5093
 tcttcagaaaagctcagtccccagtttgagtcagagtagggaccatgctgtcccaggttc       c.-121

 .         .         .         .         .         .                g.5153
 aaggataaaaaccatcaggcccaagtgccatccatagtccatctccagagtcttcctcca       c.-61

 .         .         .         .         .      | 02  .             g.5742
 caaactgggattcatccccgctgaaaaagcacaatctaacagcaag | ggaacaaaaaaacc    c.-1

          .         .         .         .         .         .       g.5802
 ATGCTATCACATAATACTATGATGAAGCAGAGAAAACAGCAAGCAACAGCCATCATGAAG       c.60
 M  L  S  H  N  T  M  M  K  Q  R  K  Q  Q  A  T  A  I  M  K         p.20

          .       | 03 .         .         .         .         .    g.20132
 GAAGTCCATGGAAATG | ATGTTGATGGCATGGACCTGGGCAAAAAGGTCAGCATCCCCAGA    c.120
 E  V  H  G  N  D |   V  D  G  M  D  L  G  K  K  V  S  I  P  R      p.40

          .         .         .         .         .         .       g.20192
 GACATCATGTTGGAAGAATTATCCCATCTCAGTAACCGTGGTGCCAGGCTATTTAAGATG       c.180
 D  I  M  L  E  E  L  S  H  L  S  N  R  G  A  R  L  F  K  M         p.60

          .         .         .         .         .         .       g.20252
 CGTCAAAGAAGATCTGACAAATACACATTTGAAAATTTCCAGTATCAATCTAGAGCACAA       c.240
 R  Q  R  R  S  D  K  Y  T  F  E  N  F  Q  Y  Q  S  R  A  Q         p.80

        | 04 .         .         .         .         .         .    g.27292
 ATAAAT | CACAGTATTGCTATGCAGAATGGGAAAGTGGATGGAAGTAACTTGGAAGGTGGT    c.300
 I  N   | H  S  I  A  M  Q  N  G  K  V  D  G  S  N  L  E  G  G      p.100

          .         .         .         .         .         .       g.27352
 TCGCAGCAAGCCCCCTTGACTCCTCCCAACACCCCAGATCCACGAAGCCCTCCAAATCCA       c.360
 S  Q  Q  A  P  L  T  P  P  N  T  P  D  P  R  S  P  P  N  P         p.120

          .       | 05 .         .         .         .         .    g.33471
 GACAACATTGCTCCAG | GATATTCTGGACCACTGAAGGAAATTCCTCCTGAAAAATTCAAC    c.420
 D  N  I  A  P  G |   Y  S  G  P  L  K  E  I  P  P  E  K  F  N      p.140

          .         .         .         .         .         .       g.33531
 ACCACAGCTGTCCCTAAGTACTATCAATCTCCCTGGGAACAAGCCATTAGCAATGATCCG       c.480
 T  T  A  V  P  K  Y  Y  Q  S  P  W  E  Q  A  I  S  N  D  P         p.160

          .         .         .         .         .         .       g.33591
 GAGCTTTTAGAGGCTTTATATCCTAAACTTTTCAAGCCTGAAGGAAAGGCAGAACTGCCT       c.540
 E  L  L  E  A  L  Y  P  K  L  F  K  P  E  G  K  A  E  L  P         p.180

          .         . | 06       .         .         .         .    g.55222
 GATTACAGGAGCTTTAACAG | GGTTGCCACACCATTTGGAGGTTTTGAAAAAGCATCAAGA    c.600
 D  Y  R  S  F  N  R  |  V  A  T  P  F  G  G  F  E  K  A  S  R      p.200

          .         .         .         .         .         .       g.55282
 ATGGTTAAATTTAAAGTTCCAGATTTTGAGCTACTATTGCTAACAGATCCCAGGTTTATG       c.660
 M  V  K  F  K  V  P  D  F  E  L  L  L  L  T  D  P  R  F  M         p.220

          .         .         .         .         .         .       g.55342
 TCCTTTGTCAATCCCCTTTCTGGCAGACGGTCCTTTAATAGGACTCCTAAGGGATGGATA       c.720
 S  F  V  N  P  L  S  G  R  R  S  F  N  R  T  P  K  G  W  I         p.240

          .         .         .         .         .         .       g.55402
 TCTGAGAATATTCCTATAGTGATAACAACCGAACCTACAGATGATACCACTGTACCAGAA       c.780
 S  E  N  I  P  I  V  I  T  T  E  P  T  D  D  T  T  V  P  E         p.260

          .                                                         g.55417
 TCAGAAGACCTATGA                                                    c.795
 S  E  D  L  X                                                      p.264

          .         .         .         .         .         .       g.55477
 aaagaaagttgtatgtgccacataaaactctgaatataaaagttgctgttctactatttt       c.*60

          .         .         .         .         .         .       g.55537
 aactactggcaaagccacttgcatttttcattagtagcaacaatagcaatttagtgattt       c.*120

          .         .         .         .         .         .       g.55597
 tccttttctgacattcaatttcaatctcagatcaaatactaataaacaattagaaatctt       c.*180

          .         .         .         .         .         .       g.55657
 actttaaaaaacttataactcacttgtcttcattcataattttgttttcacctggtttaa       c.*240

          .         .         .         .         .         .       g.55717
 agaatccagatattttactgcaaaagttcagatggaaaagtaattgacagtttcaccttt       c.*300

          .         .         .         .         .         .       g.55777
 gtctcattttatatgatttattacagtgtaagtttttcaagtggaatctagaatcaaaat       c.*360

          .         .         .         .         .         .       g.55837
 acagggagagatatgaagacctattcagagtttcatctggggatgaaagctatggaagat       c.*420

          .         .         .         .         .         .       g.55897
 gatgtacaaatgttattgatggagaaaatggttgggtgtgtcctttctggtgaccatgag       c.*480

          .         .         .         .         .         .       g.55957
 aaaataatatgtcttgatgaagtcttttcattagtcactcttagaattctaaagtgcttt       c.*540

          .         .         .         .         .         .       g.56017
 gcacttttcaatatgttttgaatcattaggtaatttattctggatgatattctccaaaat       c.*600

          .         .         .         .         .         .       g.56077
 tcaattcagttattatattcatttagcattaagtcaaggagactgagaatgactcaaggg       c.*660

          .         .         .         .         .         .       g.56137
 acgtcatagtaccatagttttaaggaccaaggtgtgcccagaattcaagtttcacaaatc       c.*720

          .         .         .         .         .         .       g.56197
 ccaatgctgtgcattgattatgttcaactttatgtgtgcattcttagaagagtaagaaca       c.*780

          .         .         .         .         .         .       g.56257
 aataaagtacaccgtaatatacatataaatacattcatgtttgtgagagaaggaaagagt       c.*840

          .         .         .         .         .         .       g.56317
 aagtaatttgaattggcagctttctttgctaaatctttaaattctgttaagatcctcaag       c.*900

          .         .         .         .         .         .       g.56377
 taactggggagtacatgctttaggacacaaacaaaaacaaagggcatgaaagtatctgaa       c.*960

          .         .         .         .         .         .       g.56437
 agcaatgtagcacatatctatcgtaatatatgtaatatattgacataaaagacacaaact       c.*1020

          .         .         .         .         .         .       g.56497
 aatataaagttatagttatatcttaaaatataattgaagaagcatatgacatataactta       c.*1080

          .         .         .         .         .         .       g.56557
 tagaaatcagtatcaattcctcccatttcaattcagttaagacttctgtgatagatgttt       c.*1140

          .         .         .         .         .         .       g.56617
 atagcagagaagaaatgtctcatcaatagaaaactatcagataaagtttaggagatagga       c.*1200

          .         .         .         .         .         .       g.56677
 agaaggactgtgtgtagtaatgaaaataccaagttgcaacattacatgtttacaaaaaaa       c.*1260

          .         .         .         .         .         .       g.56737
 aatctgtgtttgtagtgtggaagttggtgactgttttaatcatcatctagacttgttaag       c.*1320

          .         .         .         .         .         .       g.56797
 tagaaaaattttaaaaatttgcttatgaaaatataacccccagaaagtaacaatgacaaa       c.*1380

          .         .         .         .         .         .       g.56857
 gtattatatttatatatattattgtagagaatttgtatatttttaaagatgtcttaagat       c.*1440

          .         .         .         .         .         .       g.56917
 atcttaattttatttataagttttggtgtttacctgttttaaaatgataatgttggcatc       c.*1500

          .         .         .         .         .         .       g.56977
 tgtgataaactatcaatgaggctcccatcatgccattttttgttcattttaatctttaaa       c.*1560

          .         .                                               g.57006
 aaataaaaattaggcatattaattatgca                                      c.*1589

 (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 Myozenin 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 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 34
©2004-2012 Leiden University Medical Center