2,3-bisphosphoglycerate mutase (BPGM) - coding DNA reference sequence

(used for variant description)

(last modified September 4, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_199186.2 in the BPGM gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012921.1, covering BPGM transcript NM_199186.2.

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

 (upstream sequence)
                                                                    g.5001
                                                            c       c.-541

 .         .         .         .         .         .                g.5061
 caataggcagagccctaggacctgcccacgtctggttcaggggctagaaaagagcgtcga       c.-481

 .         .         .         .         .         .                g.5121
 tgccggcggcagtgatgagtcctaggaggcgctggctctttggcggctcggaggagcggc       c.-421

 .         .         .         .        | 02.         .             g.16591
 tgctgctgctgctgctgctgctggtggcccctttgcag | aaaagttctaagaacagtgctg    c.-361

 .         .         .         .         .         .                g.16651
 ttggctcagtgagatgaggttatcggaaaactttctgtttacacaagagttgcctccttc       c.-301

 .         .         .         .         .         .                g.16711
 aaagaagcatgcatggtccttgcaggtcactgtgcccatcactctgcatagtccagctgc       c.-241

 .         .         .         .         .         .                g.16771
 actctgcttcacacagctgcctgcccattgcaggcatttgagtttgcaatccatgcctta       c.-181

 .         .         .         .         .         .                g.16831
 aactttaaatcacactggctacagcgttgtgtgtttcttggtaaacactgggtaaatcag       c.-121

 .         .         .         .         .         .         | 03    g.19669
 ctcctgtggatgttgactgaagtttctatgtttgcaagctaatcctcagcagtttcttt | a    c.-61

 .         .         .         .         .         .                g.19729
 tgtattgctgtccttgaatattagcccatttgaaaacgcctgggaagttcagccatcagt       c.-1

          .         .         .         .         .         .       g.19789
 ATGTCCAAGTACAAACTTATTATGTTAAGACATGGAGAGGGTGCTTGGAATAAGGAGAAC       c.60
 M  S  K  Y  K  L  I  M  L  R  H  G  E  G  A  W  N  K  E  N         p.20

          .         .         .         .         .         .       g.19849
 CGTTTTTGTAGCTGGGTGGATCAGAAACTCAACAGCGAAGGAATGGAGGAAGCTCGGAAC       c.120
 R  F  C  S  W  V  D  Q  K  L  N  S  E  G  M  E  E  A  R  N         p.40

          .         .         .         .         .         .       g.19909
 TGTGGGAAGCAACTCAAAGCGTTAAACTTTGAGTTTGATCTTGTATTCACATCTGTCCTT       c.180
 C  G  K  Q  L  K  A  L  N  F  E  F  D  L  V  F  T  S  V  L         p.60

          .         .         .         .         .         .       g.19969
 AATCGGTCCATTCACACAGCCTGGCTGATCCTGGAAGAGCTAGGCCAGGAATGGGTGCCT       c.240
 N  R  S  I  H  T  A  W  L  I  L  E  E  L  G  Q  E  W  V  P         p.80

          .         .         .         .         .         .       g.20029
 GTGGAAAGCTCCTGGCGTCTAAATGAGCGTCACTATGGGGCCTTGATCGGTCTCAACAGG       c.300
 V  E  S  S  W  R  L  N  E  R  H  Y  G  A  L  I  G  L  N  R         p.100

          .         .         .         .         .         .       g.20089
 GAGCAGATGGCTTTGAATCATGGTGAAGAACAAGTGAGGCTCTGGAGAAGAAGCTACAAT       c.360
 E  Q  M  A  L  N  H  G  E  E  Q  V  R  L  W  R  R  S  Y  N         p.120

          .         .         .         .         .         .       g.20149
 GTAACCCCGCCTCCCATTGAGGAGTCTCATCCTTACTACCAAGAAATCTACAACGACCGG       c.420
 V  T  P  P  P  I  E  E  S  H  P  Y  Y  Q  E  I  Y  N  D  R         p.140

          .         .         .         .         .         .       g.20209
 AGGTATAAAGTATGCGATGTGCCCTTGGATCAACTGCCACGGTCGGAAAGCTTAAAGGAT       c.480
 R  Y  K  V  C  D  V  P  L  D  Q  L  P  R  S  E  S  L  K  D         p.160

          .         .         .         .         .         .       g.20269
 GTTCTGGAGAGACTCCTTCCCTATTGGAATGAAAGGATTGCTCCCGAAGTATTACGTGGC       c.540
 V  L  E  R  L  L  P  Y  W  N  E  R  I  A  P  E  V  L  R  G         p.180

          .         .         .         .         .         .       g.20329
 AAAACCATTCTGATATCTGCTCATGGAAATAGCAGTAGGGCACTCCTAAAACACCTGGAA       c.600
 K  T  I  L  I  S  A  H  G  N  S  S  R  A  L  L  K  H  L  E         p.200

   | 04      .         .         .         .         .         .    g.37133
 G | GTATCTCAGATGAAGACATCATCAACATTACTCTTCCTACTGGAGTCCCCATTCTTCTG    c.660
 G |   I  S  D  E  D  I  I  N  I  T  L  P  T  G  V  P  I  L  L      p.220

          .         .         .         .         .         .       g.37193
 GAATTGGATGAAAACCTGCGTGCTGTTGGGCCTCATCAGTTCCTGGGTGACCAAGAGGCG       c.720
 E  L  D  E  N  L  R  A  V  G  P  H  Q  F  L  G  D  Q  E  A         p.240

          .         .         .         .         .         .       g.37253
 ATCCAAGCAGCCATTAAGAAAGTAGAAGATCAAGGAAAAGTGAAACAAGCTAAAAAATAG       c.780
 I  Q  A  A  I  K  K  V  E  D  Q  G  K  V  K  Q  A  K  K  X         p.259

          .         .         .         .         .         .       g.37313
 tctttctcaactgttggctaagaagaaatgcaaaagaagtggcataggagtgtgttatgg       c.*60

          .         .         .         .         .         .       g.37373
 gtgctgaactctctctctttttccccgattttccagagctaggctgtggagtagagtttg       c.*120

          .         .         .         .         .         .       g.37433
 tataggtaactaggtaacttattgtggcccagataaggctttaggatgcctcagtgctta       c.*180

          .         .         .         .         .         .       g.37493
 tgtcatagccttatgagttagctttcttgctagccccctagtcggtcaccaaactagtaa       c.*240

          .         .         .         .         .         .       g.37553
 ctagtggggcttaatgaaggtcataagtttctgagatgggagagcaacaagtagagatga       c.*300

          .         .         .         .         .         .       g.37613
 agttaaaggtatttatcattcaagaaatcattattgagtcaccattgacaggcactattc       c.*360

          .         .         .         .         .         .       g.37673
 taatcagtagttcactttaatatttaataagattttctgggataacagtaagggatatta       c.*420

          .         .         .         .         .         .       g.37733
 gataatataccgtatgtatttattactagtcttttcctctaggaaaagggatactttgat       c.*480

          .         .         .         .         .         .       g.37793
 aattaaggccagaggcccattagttgagaaagtcacagatatatttctccaagaaagcca       c.*540

          .         .         .         .         .         .       g.37853
 acaaccaccaccacaatgacagaaatgacaacaaggccctttaacttgtcttctagttta       c.*600

          .         .         .         .         .         .       g.37913
 gagacatccttcatttgacatttagtagaattcctctttggccacaagaataagcagcaa       c.*660

          .         .         .         .         .         .       g.37973
 ataaacaactatggctgttgaggttctcattttggtttgttttaattttttgaactttgg       c.*720

          .         .         .         .         .         .       g.38033
 gtacctgtaattagtttaaaaataaagttcctgataataaagtgactgaaaatggcatcc       c.*780

                                                                    g.38038
 ccaaa                                                              c.*785

 (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 2,3-bisphosphoglycerate mutase 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.