methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (MMACHC) - coding DNA reference sequence

(used for variant description)

(last modified September 18, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_015506.2 in the MMACHC gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_013378.1, covering MMACHC transcript NM_015506.2.

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

 (upstream sequence)
                                         .         .                g.5029
                                atcccaagatgcatcgcgcataggcaata       c.-121

 .         .         .         .         .         .                g.5089
 tggtcccgctactggacccatttcctacctgggaaatggagtcgaagctgactcaaaacg       c.-61

 .         .         .         .         .         .                g.5149
 taacggcccaattgtccttgagacttcattccccagcaagctcagcgtgtaacgtgcgct       c.-1

          .         .         .         .         .         .       g.5209
 ATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGC       c.60
 M  E  P  K  V  A  E  L  K  Q  K  I  E  D  T  L  C  P  F  G         p.20

          .         .  | 02      .         .         .         .    g.12211
 TTCGAGGTTTACCCCTTCCAG | GTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCAC    c.120
 F  E  V  Y  P  F  Q   | V  A  W  Y  N  E  L  L  P  P  A  F  H      p.40

          .         .         .         .         .         .       g.12271
 CTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGAC       c.180
 L  P  L  P  G  P  T  L  A  F  L  V  L  S  T  P  A  M  F  D         p.60

          .         .         .         .         .         .       g.12331
 CGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGAC       c.240
 R  A  L  K  P  F  L  Q  S  C  H  L  R  M  L  T  D  P  V  D         p.80

          .         .         .       | 03 .         .         .    g.13052
 CAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAG | AGCCTCCCAGAGCTGCAGATAGAA    c.300
 Q  C  V  A  Y  H  L  G  R  V  R  E   | S  L  P  E  L  Q  I  E      p.100

          .         .         .         .         .         .       g.13112
 ATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCA       c.360
 I  I  A  D  Y  E  V  H  P  N  R  R  P  K  I  L  A  Q  T  A         p.120

          .         .         .         .         .         .       g.13172
 GCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGG       c.420
 A  H  V  A  G  A  A  Y  Y  Y  Q  R  Q  D  V  E  A  D  P  W         p.140

           | 04        .         .         .         .         .    g.13663
 GGGAACCAG | CGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATC    c.480
 G  N  Q   | R  I  S  G  V  C  I  H  P  R  F  G  G  W  F  A  I      p.160

          .         .         .         .         .         .       g.13723
 CGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCAT       c.540
 R  G  V  V  L  L  P  G  I  E  V  P  D  L  P  P  R  K  P  H         p.180

          .         .         .         .         .         .       g.13783
 GACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGG       c.600
 D  C  V  P  T  R  A  D  R  I  A  L  L  E  G  F  N  F  H  W         p.200

          .         .         .         .         .         .       g.13843
 CGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAG       c.660
 R  D  W  T  Y  R  D  A  V  T  P  Q  E  R  Y  S  E  E  Q  K         p.220

          .         .         .         .         .         .       g.13903
 GCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCA       c.720
 A  Y  F  S  T  P  P  A  Q  R  L  A  L  L  G  L  A  Q  P  S         p.240

          .         .         .         .         .         .       g.13963
 GAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCT       c.780
 E  K  P  S  S  P  S  P  D  L  P  F  T  T  P  A  P  K  K  P         p.260

          .         .         .         .         .         .       g.14023
 GGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCT       c.840
 G  N  P  S  R  A  R  S  W  L  S  P  R  V  S  P  P  A  S  P         p.280

                                                                    g.14032
 GGCCCTTGA                                                          c.849
 G  P  X                                                            p.282

          .         .         .         .         .         .       g.14092
 ttttctcccatgtggaccctgatttatggtggtacttgctaggacttaattggctttggc       c.*60

          .         .         .         .         .         .       g.14152
 aaagcaaaaggttttgagtacaagattactatttttgataatatagtagagatcttccat       c.*120

          .         .         .         .         .         .       g.14212
 gaagataacaaggctcaaggaagttaggtttggccaagataaaggccagggaaccagaat       c.*180

          .         .         .         .         .         .       g.14272
 tcccatctgccttcaaatgagttttttttttttttttagacagagtcttactctgtcacc       c.*240

          .         .         .         .         .         .       g.14332
 taggctggagtgcagtggcacagtctctactcactgcaacctctgcctcctgggttcaag       c.*300

          .         .         .         .         .         .       g.14392
 caattatctgcctcagcctcctgagtagctgggatgacaggtgcctgccactacacctgg       c.*360

          .         .         .         .         .         .       g.14452
 ctaattttttgtatttttagtagagatggggtttcatcatattggccaggctggtcttta       c.*420

          .         .         .         .         .         .       g.14512
 actcctgacctcgtgatccacccatcttggcctcccaaagtcctgggattacaggaatga       c.*480

          .         .         .         .         .         .       g.14572
 gccaccgcacccagccaagactctatctgttcccatttctaagcagttccccaagatgtt       c.*540

          .         .         .         .         .         .       g.14632
 gttacagggcctaaggggcaaatatcctctaaagagtacctaccagcagggtgtggtggc       c.*600

          .         .         .         .         .         .       g.14692
 tcccgcctgtaatcccagcactctgggaggccgaggcaggtggatcatgaggtcgagttt       c.*660

          .         .         .         .         .         .       g.14752
 gagaccagcctggccaatacagtgaaaccccgtctctactaaaaatgcaaagttagccgg       c.*720

          .         .         .         .         .         .       g.14812
 gcatggtagcgcaggcctgtagtcccagctactcaggaggctgaggcagtagaatcattt       c.*780

          .         .         .         .         .         .       g.14872
 gaaccagggaggcagagattgcagtgagccgagattgcatggctgcactctagcctgggt       c.*840

          .         .         .         .         .         .       g.14932
 gacagtgtgagactctgtctcaaaaaaaaaaaaaaaagtacctacctcaggtagggactg       c.*900

          .         .         .         .         .         .       g.14992
 aataaacacgtgtaaggcactttggaaaaatacctggcatatatagtaagcagtatgttg       c.*960

          .         .         .         .         .         .       g.15052
 gccattaccaaaggccctgggaattctgtactgctgctcatgggtgtagtcggttctaga       c.*1020

          .         .         .         .         .         .       g.15112
 ggggtgggcaggtgggagtagctgaggaagacaagtggctggaatggtatcacatgatac       c.*1080

          .         .         .         .         .         .       g.15172
 acagaagtatcctcagttctgaatctaccttggcctcaagggcccaggagaataactttt       c.*1140

          .         .         .         .         .         .       g.15232
 cccagctgacagcctctctgaggacaatgacatatgaatgaggatcaaaacgagctttgg       c.*1200

          .         .         .         .         .         .       g.15292
 ccaggcactgtggcgctcacctgtaatcccaccattttgggaggctgaggcggaggaccg       c.*1260

          .         .         .         .         .         .       g.15352
 cctgaggcaaggaattcagaaccactctgggcaacataatgacactaaaaaagactatct       c.*1320

          .         .         .         .         .         .       g.15412
 ctaatcaaggctagaaccaagggaaggctaagaattgcccagtactgtgcaactacgaaa       c.*1380

          .         .         .         .         .         .       g.15472
 gccctacccaaggccaccagccttgtcttcctctttcctctgtcagttcaaaaagaacag       c.*1440

          .         .         .         .         .         .       g.15532
 aaacctccagctcttttacatagcaggtaccaggcatttatcagaagaggccaagcttct       c.*1500

          .         .         .         .         .         .       g.15592
 ggttcccatgcagccctttgaatagtgtgtctaaacaaaaataggtgtccaagtagtcac       c.*1560

          .         .         .         .         .         .       g.15652
 actgagactttaactggtaacccagcctgtggcgtcagtcgcagtgctctggccaacact       c.*1620

          .         .         .         .         .         .       g.15712
 atagcagggcttattcttctccctcatgtgtagtgaaacaaaatgtaacaccttgggttc       c.*1680

          .         .         .         .         .         .       g.15772
 attcagttccattccctatatctacctgtgtcaatataattccctgatttggaggcagct       c.*1740

          .         .         .         .         .         .       g.15832
 ctcctcattttccccaaaacagggaaagcaaggagtaaattcctcttaaaatcaaaagct       c.*1800

          .         .         .         .         .                 g.15884
 aataatatgcttcctaaaataaagactcatcaaggtctcagttcaagtttaa               c.*1852

 (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 Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 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.