mitochondrial genome maintenance exonuclease 1 (MGME1) - coding DNA reference sequence

(used for variant description)

(last modified May 1, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_052865.2 in the MGME1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000020.11, covering MGME1 transcript NM_052865.2.

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

 (upstream sequence)
                                         .         .                g.5288
                                       agcgaagtgtggtggcttccaa       c.-61

 . | 02       .         .         .         .         .             g.6007
 g | gaatacaaacataaaggccttcgaccgttgcaaatagactaaagtgaaaacaaatctga    c.-1

          .         .         .         .         .         .       g.6067
 ATGAAGATGAAGTTATTTCAGACCATTTGCAGGCAGCTCAGGAGTTCAAAGTTTTCTGTG       c.60
 M  K  M  K  L  F  Q  T  I  C  R  Q  L  R  S  S  K  F  S  V         p.20

          .         .         .         .         .         .       g.6127
 GAATCAGCTGCCCTTGTGGCTTTCTCTACTTCCTCTTACTCATGTGGCCGGAAGAAAAAA       c.120
 E  S  A  A  L  V  A  F  S  T  S  S  Y  S  C  G  R  K  K  K         p.40

          .         .         .         .         .         .       g.6187
 GTGAACCCATATGAAGAAGTGGACCAAGAAAAATACTCTAATTTAGTTCAGTCTGTCTTG       c.180
 V  N  P  Y  E  E  V  D  Q  E  K  Y  S  N  L  V  Q  S  V  L         p.60

          .         .         .         .         .         .       g.6247
 TCATCCAGAGGCGTCGCCCAGACCCCGGGATCGGTGGAGGAAGATGCTTTGCTCTGTGGA       c.240
 S  S  R  G  V  A  Q  T  P  G  S  V  E  E  D  A  L  L  C  G         p.80

          .         .         .         .         .         .       g.6307
 CCCGTGAGCAAGCATAAGCTGCCAAACCAAGGTGAGGACAGACGAGTGCCACAAAACTGG       c.300
 P  V  S  K  H  K  L  P  N  Q  G  E  D  R  R  V  P  Q  N  W         p.100

          .         .         .         .         .         .       g.6367
 TTTCCTATCTTCAATCCAGAGAGAAGTGATAAACCAAATGCAAGTGATCCTTCAGTTCCT       c.360
 F  P  I  F  N  P  E  R  S  D  K  P  N  A  S  D  P  S  V  P         p.120

          .         .         .         .         .         .       g.6427
 TTGAAAATCCCCTTGCAAAGGAATGTGATACCAAGTGTGACCCGAGTCCTTCAGCAGACC       c.420
 L  K  I  P  L  Q  R  N  V  I  P  S  V  T  R  V  L  Q  Q  T         p.140

          .         .         .         .         .         .       g.6487
 ATGACAAAACAACAGGTTTTCTTGTTGGAGAGGTGGAAACAGCGGATGATTCTGGAACTG       c.480
 M  T  K  Q  Q  V  F  L  L  E  R  W  K  Q  R  M  I  L  E  L         p.160

          .         .         .  | 03      .         .         .    g.11860
 GGAGAAGATGGCTTTAAAGAATACACTTCAA | ACGTCTTTTTACAAGGGAAACGGTTCCAC    c.540
 G  E  D  G  F  K  E  Y  T  S  N |   V  F  L  Q  G  K  R  F  H      p.180

          .         .         .         .         .         .       g.11920
 GAAGCCTTGGAAAGCATACTTTCACCCCAGGAAACCTTAAAAGAGAGAGATGAAAATCTC       c.600
 E  A  L  E  S  I  L  S  P  Q  E  T  L  K  E  R  D  E  N  L         p.200

          .         .         .         .         .         .       g.11980
 CTCAAGTCTGGTTACATTGAAAGTGTCCAGCATATTCTGAAAGATGTCAGTGGAGTGCGA       c.660
 L  K  S  G  Y  I  E  S  V  Q  H  I  L  K  D  V  S  G  V  R         p.220

          .         .         .         .         .         .       g.12040
 GCTCTTGAAAGTGCTGTTCAACATGAAACCTTAAACTATATAGGTCTGCTGGACTGTGTG       c.720
 A  L  E  S  A  V  Q  H  E  T  L  N  Y  I  G  L  L  D  C  V         p.240

          .  | 04      .         .         .         .         .    g.24362
 GCTGAGTATCA | GGGCAAGCTCTGTGTGATTGATTGGAAGACATCAGAGAAACCAAAGCCT    c.780
 A  E  Y  Q  |  G  K  L  C  V  I  D  W  K  T  S  E  K  P  K  P      p.260

          .         .         .         .         .         .       g.24422
 TTTATTCAAAGTACATTTGACAACCCACTGCAAGTTGTGGCATACATGGGTGCCATGAAC       c.840
 F  I  Q  S  T  F  D  N  P  L  Q  V  V  A  Y  M  G  A  M  N         p.280

          .         .     | 05   .         .         .         .    g.26122
 CATGATACCAACTACAGCTTTCAG | GTTCAATGTGGCTTAATTGTGGTGGCCTACAAAGAT    c.900
 H  D  T  N  Y  S  F  Q   | V  Q  C  G  L  I  V  V  A  Y  K  D      p.300

          .         .         .         .         .         .       g.26182
 GGATCACCTGCCCACCCACATTTCATGGATGCAGAGCTCTGTTCCCAGTACTGGACCAAG       c.960
 G  S  P  A  H  P  H  F  M  D  A  E  L  C  S  Q  Y  W  T  K         p.320

          .         .         .         .         .         .       g.26242
 TGGCTTCTTCGACTAGAAGAATATACGGAAAAGAAAAAGAACCAGAATATTCAGAAACCA       c.1020
 W  L  L  R  L  E  E  Y  T  E  K  K  K  N  Q  N  I  Q  K  P         p.340

          .                                                         g.26257
 GAATATTCAGAATAG                                                    c.1035
 E  Y  S  E  X                                                      p.344

          .         .         .         .         .         .       g.26317
 ggagcaagttgctatttgggaacattcagcaccttctcacagtttgggaacatatattgc       c.*60

          .         .         .         .         .         .       g.26377
 tgtttactccagtgtaaaaatgaggtgccactggatctgagtgctacacgaacacaagta       c.*120

          .         .         .         .         .         .       g.26437
 gaagtattaatttgttgaaatgtgttgttaccaaaaagactgaaaagccccaaagtctag       c.*180

          .         .         .         .         .         .       g.26497
 atataaagacctagacttcggcacgcgaaatcccagctatgctacctcttatttacctga       c.*240

          .         .         .         .         .         .       g.26557
 aaggaggacacgcaggatgggcagtcatgctggtgactcttgtactcccttgagggacat       c.*300

          .         .         .         .         .         .       g.26617
 tgggggggggggggcgtggtcccaggcaggatgcccagtctttgagctgagattggaagg       c.*360

          .         .         .         .         .         .       g.26677
 cagtgaggctgagggtgccaagatttccccagggttcacccagaggggaaggggctacat       c.*420

          .         .         .         .         .         .       g.26737
 gcccccagctgtgtgcagggaggacacatcagcccactaccgctgccaacaccaatgcct       c.*480

          .         .         .         .         .         .       g.26797
 aaaacttgtttcatacattggggttttctatatatttcagctgggaaaagcttacattta       c.*540

          .         .         .         .         .         .       g.26857
 accttttgaaaaaataaatacgtgattagcctcaactaaacattgctgactataaagaca       c.*600

          .         .         .         .         .         .       g.26917
 gtatattcaccatgtcgctggcaatatgtcattgcgtaacaccaaataaccccccagaag       c.*660

          .         .         .         .         .         .       g.26977
 tagccagaggccagtttgaacatcacaattctaagtgttttagtaactatttctggcgtg       c.*720

          .         .         .         .         .         .       g.27037
 agtcaacagatcatgtagatagagtcaattattgtttgtggagtttttcagctatagggg       c.*780

          .         .         .         .         .         .       g.27097
 aggggaactattaaaatccatttgtttctattcaataggtaataaaaattagttgtccct       c.*840

          .         .         .         .         .         .       g.27157
 gggtttgggaaacttaaatgcccattacagccctggggaagggttttctgtcttatggag       c.*900

          .         .         .         .         .         .       g.27217
 tgagtcttagcatttaagttatacagttgctgccttaaaatagtagcctgctacaatgac       c.*960

          .         .         .         .                           g.27266
 ttctttgggtagccattttcataagaaataaaatacaagatatgagtaa                  c.*1009

 (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 Mitochondrial genome maintenance exonuclease 1 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.