myelin protein zero (MPZ) - coding DNA reference sequence

(used for mutation description)

(last modified May 21, 2012)

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

The sequence was taken from NG_008055.1, covering MPZ transcript NM_000530.6.

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

 (upstream sequence)
                                                                    g.5007
                                                      gttcagt       c.-61

 .         .         .         .         .         .                g.5067
 tcctggtcccccactttctcaaccccacagatgctccgggcccctgcccctgccccagct       c.-1

          .         .         .         .         .         .       g.5127
 ATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCT       c.60
 M  A  P  G  A  P  S  S  S  P  S  P  I  L  A  V  L  L  F  S         p.20

         | 02.         .         .         .         .         .    g.7601
 TCTTTGG | TGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGT    c.120
 S  L  V |   L  S  P  A  Q  A  I  V  V  Y  T  D  R  E  V  H  G      p.40

          .         .         .         .         .         .       g.7661
 GCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGAT       c.180
 A  V  G  S  R  V  T  L  H  C  S  F  W  S  S  E  W  V  S  D         p.60

          .         .         .         .         .     | 03   .    g.8057
 GACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCG | ATCTTC    c.240
 D  I  S  F  T  W  R  Y  Q  P  E  G  G  R  D  A  I  S   | I  F      p.80

          .         .         .         .         .         .       g.8117
 CACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAG       c.300
 H  Y  A  K  G  Q  P  Y  I  D  E  V  G  T  F  K  E  R  I  Q         p.100

          .         .         .         .         .         .       g.8177
 TGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGT       c.360
 W  V  G  D  P  R  W  K  D  G  S  I  V  I  H  N  L  D  Y  S         p.120

          .         .         .         .         .         .       g.8237
 GACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCT       c.420
 D  N  G  T  F  T  C  D  V  K  N  P  P  D  I  V  G  K  T  S         p.140

          .         .         | 04         .         .         .    g.8540
 CAGGTCACGCTGTATGTCTTTGAAAAAG | TGCCAACTAGGTACGGGGTCGTTCTGGGAGCT    c.480
 Q  V  T  L  Y  V  F  E  K  V |   P  T  R  Y  G  V  V  L  G  A      p.160

          .         .         .         .         .         .       g.8600
 GTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGG       c.540
 V  I  G  G  V  L  G  V  V  L  L  L  L  L  L  F  Y  V  V  R         p.180

          .         .         .         .     | 05   .         .    g.8820
 TACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAG | TGCTATGGAGAAGGGG    c.600
 Y  C  W  L  R  R  Q  A  A  L  Q  R  R  L  S  |  A  M  E  K  G      p.200

          .         .         .         .      | 06  .         .    g.9010
 AAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAG | ACGCCAGTGCTGTAT    c.660
 K  L  H  K  P  G  K  D  A  S  K  R  G  R  Q   | T  P  V  L  Y      p.220

          .         .         .         .         .         .       g.9070
 GCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTG       c.720
 A  M  L  D  H  S  R  S  T  K  A  V  S  E  K  K  A  K  G  L         p.240

          .         .                                               g.9097
 GGGGAGTCTCGCAAGGATAAGAAATAG                                        c.747
 G  E  S  R  K  D  K  K  X                                          p.248

          .         .         .         .         .         .       g.9157
 cggttagcgggccgggcgggggatcgggggttaggggtggagtccgccaaaggcccaaag       c.*60

          .         .         .         .         .         .       g.9217
 gtgatggtcatcgagatggagctacgaaaggatgagcagagcccggagctccggcctgct       c.*120

          .         .         .         .         .         .       g.9277
 gtcaagtcccccagcagaaccagcctcaaaaacgccctcaagaacatgatgggcctgaac       c.*180

          .         .         .         .         .         .       g.9337
 tcggacaagtgatcgccacccccccaccccaggccctgccagagcagggggacctaggct       c.*240

          .         .         .         .         .         .       g.9397
 cctcttacccccgtctaggtgctttccctctttgctcccccgccctgccctgccctcacc       c.*300

          .         .         .         .         .         .       g.9457
 tccctttgagatgtaagtttcattccagaattcattccccaggcaattgtattctccccc       c.*360

          .         .         .         .         .         .       g.9517
 accttcacccctggctttctgggagcccaggagctaatcctacccctcacctgccccggg       c.*420

          .         .         .         .         .         .       g.9577
 ggctgtgtgtttggtgcctgtccacctgagcactgagaagaaagggactttgataccctc       c.*480

          .         .         .         .         .         .       g.9637
 tgcctcaagtccaggccacctggcattcccatctcctgcatcccccagcctgtccccctg       c.*540

          .         .         .         .         .         .       g.9697
 gctgtttcctctcccgtccctccctcccctctaccaggtggcccagctccatactctgtc       c.*600

          .         .         .         .         .         .       g.9757
 cccccagctaatacccagagcacccagatcagactctccttcagggtttatttaggttat       c.*660

          .         .         .         .         .         .       g.9817
 tattttttattttttaatccattctttgtttgtttacctgtgctcatcctctgcccttac       c.*720

          .         .         .         .         .         .       g.9877
 acccatgactgaggaccaatgacgtcatgtggcttttgcaattcacgccccccttaagtc       c.*780

          .         .         .         .         .         .       g.9937
 cttaatgaagagccagcccaagtagaggggcccctgatcctcacacttcagtatagcatt       c.*840

          .         .         .         .         .         .       g.9997
 ggttccccctgaccactttggagcactgttctgggactccaggtcttgaggagagagaca       c.*900

          .         .         .         .         .         .       g.10057
 gagagagagaatggatcctcataggtcagggagtgggggagggggcaaatgagccttaag       c.*960

          .         .         .         .         .         .       g.10117
 aaatggtttttaaacaaccaaacaaaaagcaggaaaaacaaatgggaaatgggggggcgg       c.*1020

          .         .         .         .         .         .       g.10177
 gggggaggaagaggctgcactgcagccacaggggattcttaggatttttctacattctgt       c.*1080

          .         .         .         .         .         .       g.10237
 atatttcttctcaaacctccaaatgtccttaaatgtttaataaacactgacatttccaga       c.*1140

                                                                    g.10238
 a                                                                  c.*1141

 (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 Myelin protein zero 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.