phosphomannomutase 2 (PMM2) - coding DNA reference sequence

(used for variant description)

(last modified March 20, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_000303.2 in the PMM2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009209.1, covering PMM2 transcript NM_000303.2.

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

 (upstream sequence)
                                                   .                g.5010
                                                   gaacccggaa       c.-61

 .         .         .         .         .         .                g.5070
 gttccgggccgagttcctcgtgccaacgtgtcttgtaaggtgcggctagaaactggggac       c.-1

          .         .         .         .         .         .       g.5130
 ATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCG       c.60
 M  A  A  P  G  P  A  L  C  L  F  D  V  D  G  T  L  T  A  P         p.20

        | 02 .         .         .         .         .         .    g.9040
 CGGCAG | AAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAA    c.120
 R  Q   | K  I  T  K  E  M  D  D  F  L  Q  K  L  R  Q  K  I  K      p.40

          .         .         .         .         .         | 03    g.11956
 ATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATG | TG    c.180
 I  G  V  V  G  G  S  D  F  E  K  V  Q  E  Q  L  G  N  D  V |       p.60

          .         .         .         .         .         .       g.12016
 GTTGAAAAATACGATTATGTGTTTCCAGAAAATGGCTTGGTAGCATACAAAGATGGGAAA       c.240
 V  E  K  Y  D  Y  V  F  P  E  N  G  L  V  A  Y  K  D  G  K         p.80

          .      | 04  .         .         .         .         .    g.13548
 CTCTTGTGTAGACAG | AATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATC    c.300
 L  L  C  R  Q   | N  I  Q  S  H  L  G  E  A  L  I  Q  D  L  I      p.100

          .         .         .         .        | 05.         .    g.18279
 AACTACTGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAG | GGGTACTTTCATT    c.360
 N  Y  C  L  S  Y  I  A  K  I  K  L  P  K  K  R  |  G  T  F  I      p.120

          .         .         .         .         .         .       g.18339
 GAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAA       c.420
 E  F  R  N  G  M  L  N  V  S  P  I  G  R  S  C  S  Q  E  E         p.140

          .         .        | 06.         .         .         .    g.18858
 CGCATTGAGTTCTACGAACTCGATAAA | AAAGAAAATATAAGACAAAAGTTTGTAGCAGAT    c.480
 R  I  E  F  Y  E  L  D  K   | K  E  N  I  R  Q  K  F  V  A  D      p.160

          .         .         .         .    | 07    .         .    g.20195
 CTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAG | GAGGCCAGATCAGCTTT    c.540
 L  R  K  E  F  A  G  K  G  L  T  F  S  I  G |   G  Q  I  S  F      p.180

          .         .         .         .         .         .       g.20255
 GATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGT       c.600
 D  V  F  P  D  G  W  D  K  R  Y  C  L  R  H  V  E  N  D  G         p.200

          .         .         .          | 08        .         .    g.54932
 TATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCA | GGTGGCAATGACCATGAGATC    c.660
 Y  K  T  I  Y  F  F  G  D  K  T  M  P   | G  G  N  D  H  E  I      p.220

          .         .         .         .         .         .       g.54992
 TTCACAGACCCCAGAACCATGGGCTACTCCGTGACAGCGCCTGAGGACACGCGCAGGATC       c.720
 F  T  D  P  R  T  M  G  Y  S  V  T  A  P  E  D  T  R  R  I         p.240

          .         .                                               g.55013
 TGTGAACTGCTGTTCTCCTAA                                              c.741
 C  E  L  L  F  S  X                                                p.246

          .         .         .         .         .         .       g.55073
 cgtgggagcgggaggggcggggtcccggctgacaagccagcatagggcattcggtggcca       c.*60

          .         .         .         .         .         .       g.55133
 gagccgagggtcctcccacacgtgctcacccacccgcagcctaggcaggctctgcatgct       c.*120

          .         .         .         .         .         .       g.55193
 atgccaggcatgtgcagtctggacttccacctccagtgccagaaacttccagaaggaagg       c.*180

          .         .         .         .         .         .       g.55253
 agaaaactcttgtcaagaatggcccagaggaatgcctcgcacaaaaggtcttccccaccc       c.*240

          .         .         .         .         .         .       g.55313
 acccccagccccctagtctaatacccaccctgatacgtgcaatcatgtagttttggcgga       c.*300

          .         .         .         .         .         .       g.55373
 aatttccccatcattctaggatgatacagaaagaaaaactgtgcctggaccctccctctt       c.*360

          .         .         .         .         .         .       g.55433
 ggtgggtctgtggaaacataagcggtttttttaatgggcccctgcatcaataccaaacat       c.*420

          .         .         .         .         .         .       g.55493
 gggggtttggtaatgagaaaccaggacaggccatctgcagtgacccagcccaggacgaag       c.*480

          .         .         .         .         .         .       g.55553
 tttacaaacacctcctggaacgaagctcccgcctgcatgtcaccttgatgggggctgtga       c.*540

          .         .         .         .         .         .       g.55613
 gtggggcagtgtgatacccagtgactagacgcactctgcgttttcccgtgtttggggctg       c.*600

          .         .         .         .         .         .       g.55673
 aggcctgctggacagatggctggccaagtgggagcagaccctagggagtttgcacctcgg       c.*660

          .         .         .         .         .         .       g.55733
 ctgggccggattcggaccggctctgtgttcactacactcagaatagcctggctgcttctc       c.*720

          .         .         .         .         .         .       g.55793
 tgtctccgagaccggaggtagtgggaaccaacagctgggctggagagttggtgctggcaa       c.*780

          .         .         .         .         .         .       g.55853
 aacagtccttgccctggggccggttcttacccaggtccagagaaaccaacgcgggatgtc       c.*840

          .         .         .         .         .         .       g.55913
 agacttcaccaaaaggactttctggttgcccctggctggcttcctggaggcgttcgcctc       c.*900

          .         .         .         .         .         .       g.55973
 tagtttctcagggatggagcgagagcccagccagagaacagtaagaggagctgctctcct       c.*960

          .         .         .         .         .         .       g.56033
 atctgcactcacccaggccttcacccagactttaccacggaggcggctgagtgcagctac       c.*1020

          .         .         .         .         .         .       g.56093
 agctaggtccgcgtccctcactcttttcatcttctgcacgttcttcgtgaaactggaagg       c.*1080

          .         .         .         .         .         .       g.56153
 atcccgggtctcagctagaacacggtggaagagaactttcctaggaaacggttcatgtgt       c.*1140

          .         .         .         .         .         .       g.56213
 cacttttcaggatgtggaaacactgagccatacaccctccattgcttggtgctggggttg       c.*1200

          .         .         .         .         .         .       g.56273
 tgtggcctccactgggcacttgccgacctgagtctggggccaggggagcccaggctgccc       c.*1260

          .         .         .         .         .         .       g.56333
 tgcactcctgcctcccagcccacagccaggtgctttcatcacagctaaacctggttccct       c.*1320

          .         .         .         .         .         .       g.56393
 ccaaacctcccagccactcgggcttgtaactgtctgagccccggatccggtggggtgaaa       c.*1380

          .         .         .         .         .         .       g.56453
 gcagccagctcatcccagtgactcacaggacacagccatccagcggcatctttccttgtc       c.*1440

          .         .         .         .         .         .       g.56513
 gaatgatactgtaatgaccttccaaagtgaagagtagcacattaaagtgattttattgtt       c.*1500

          .                                                         g.56525
 tcctgtttctca                                                       c.*1512

 (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 Phosphomannomutase 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.