mitofusin 2 (MFN2) - 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 MFN2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007945.1, covering MFN2 transcript NM_014874.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5033
                            atgatgcagtgggagtccgagcctctgcgtcgt       c.-421

 .         .         .         .         .         .                g.5093
 ccgcttgggacgcgccggcggaggagtggcgcgcggaggagtggcgcgctgagacgccgc       c.-361

 .         .         .         .         .         .                g.5153
 tcgaagcgccgagtcgcggggcagcagaggcgtaaggagtaggcggggcgagccggctgg       c.-301

 .         .         .         .         .         .                g.5213
 gctcagggtccaccagctcacccgggtcgaggggcaatctgaggcgactggtgacgcgct       c.-241

 .         .         .         .         .         .                g.5273
 tatccacttccctcctcccgcctccccctggggtggcgctcgctggtgacgtagtgagtg       c.-181

 .         .         .         . | 02       .         .             g.6818
 tgatggccgccgcgaggccgggaaggtgaag | tcaggactggtggagtcaacacagtcaat    c.-121

 .         .         .         .         .         .                g.6878
 caatagccaacctcaacctgagacaggacagaagagaactcagaatctttttgtcttttg       c.-61

 .         .         .         .         .         .      | 03      g.13988
 gacttcagccatgtccatgatgcctaccctgtgaagatctctcaccatccaaaaaa | cgca    c.-1

          .         .         .         .         .         .       g.14048
 ATGTCCCTGCTCTTCTCTCGATGCAACTCTATCGTCACAGTCAAGAAAAATAAGAGACAC       c.60
 M  S  L  L  F  S  R  C  N  S  I  V  T  V  K  K  N  K  R  H         p.20

          .         .         .         .         .         .       g.14108
 ATGGCTGAGGTGAATGCATCCCCACTTAAGCACTTTGTCACTGCCAAGAAGAAGATCAAT       c.120
 M  A  E  V  N  A  S  P  L  K  H  F  V  T  A  K  K  K  I  N         p.40

          .         .         .         .         .      | 04  .    g.17379
 GGCATTTTTGAGCAGCTGGGGGCCTACATCCAGGAGAGCGCCACCTTCCTTGAAG | ACACG    c.180
 G  I  F  E  Q  L  G  A  Y  I  Q  E  S  A  T  F  L  E  D |   T      p.60

          .         .         .         .         .         .       g.17439
 TACAGGAATGCAGAACTGGACCCCGTTACCACAGAAGAACAGGTTCTGGACGTCAAAGGT       c.240
 Y  R  N  A  E  L  D  P  V  T  T  E  E  Q  V  L  D  V  K  G         p.80

          .         .         .         .         .         .       g.17499
 TACCTATCCAAAGTGAGAGGCATCAGTGAGGTGCTGGCTCGGAGGCACATGAAAGTGGCT       c.300
 Y  L  S  K  V  R  G  I  S  E  V  L  A  R  R  H  M  K  V  A         p.100

          .  | 05      .         .         .         .         .    g.21024
 TTTTTTGGCCG | GACGAGCAATGGGAAGAGCACCGTGATCAATGCCATGCTCTGGGACAAA    c.360
 F  F  G  R  |  T  S  N  G  K  S  T  V  I  N  A  M  L  W  D  K      p.120

          .         .         .         .         .         .       g.21084
 GTTCTGCCCTCTGGGATTGGCCACACCACCAATTGCTTCCTGCGGGTAGAGGGCACAGAT       c.420
 V  L  P  S  G  I  G  H  T  T  N  C  F  L  R  V  E  G  T  D         p.140

          .         .         .         .         .     | 06   .    g.22122
 GGCCATGAGGCCTTTCTCCTTACCGAGGGCTCAGAGGAAAAGAGGAGTGCCAAG | ACTGTG    c.480
 G  H  E  A  F  L  L  T  E  G  S  E  E  K  R  S  A  K   | T  V      p.160

          .         .         .         .         .         .       g.22182
 AACCAGCTGGCCCATGCCCTCCACCAGGACAAGCAGCTCCATGCCGGCAGCCTAGTGAGT       c.540
 N  Q  L  A  H  A  L  H  Q  D  K  Q  L  H  A  G  S  L  V  S         p.180

          .         .         .         .         .          | 07    g.23590
 GTGATGTGGCCCAACTCTAAGTGCCCACTTCTGAAGGATGACCTCGTTTTGATGGACAG | C    c.600
 V  M  W  P  N  S  K  C  P  L  L  K  D  D  L  V  L  M  D  S  |      p.200

          .         .         .         .         .         .       g.23650
 CCTGGTATTGATGTCACCACAGAGCTGGACAGCTGGATTGACAAGTTTTGTCTGGATGCT       c.660
 P  G  I  D  V  T  T  E  L  D  S  W  I  D  K  F  C  L  D  A         p.220

          .         .         .         .         | 08         .    g.23819
 GATGTGTTTGTGCTGGTGGCCAACTCAGAGTCCACCCTGATGCAGACG | GAAAAGCACTTC    c.720
 D  V  F  V  L  V  A  N  S  E  S  T  L  M  Q  T   | E  K  H  F      p.240

          .         .         .         .         .         .       g.23879
 TTCCACAAGGTGAGTGAGCGTCTCTCCCGGCCAAACATCTTCATCCTGAACAACCGCTGG       c.780
 F  H  K  V  S  E  R  L  S  R  P  N  I  F  I  L  N  N  R  W         p.260

          .         .         .       | 09 .         .         .    g.26244
 GATGCATCTGCCTCAGAGCCCGAGTACATGGAGGAG | GTGCGGCGGCAGCACATGGAGCGT    c.840
 D  A  S  A  S  E  P  E  Y  M  E  E   | V  R  R  Q  H  M  E  R      p.280

          .         .         .         .         .         .       g.26304
 TGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGC       c.900
 C  T  S  F  L  V  D  E  L  G  V  V  D  R  S  Q  A  G  D  R         p.300

          .         .         .         .         .         .       g.26364
 ATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATG       c.960
 I  F  F  V  S  A  K  E  V  L  N  A  R  I  Q  K  A  Q  G  M         p.320

          . | 10       .         .         .         .         .    g.26638
 CCTGAAGGAG | GGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAAT    c.1020
 P  E  G  G |   G  A  L  A  E  G  F  Q  V  R  M  F  E  F  Q  N      p.340

          .         | 11         .         .         .         .    g.26843
 TTTGAGAGGAGATTTGAG | GAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAG    c.1080
 F  E  R  R  F  E   | E  C  I  S  Q  S  A  V  K  T  K  F  E  Q      p.360

          .         .         .         .         .         .       g.26903
 CACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCAC       c.1140
 H  T  V  R  A  K  Q  I  A  E  A  V  R  L  I  M  D  S  L  H         p.380

          .         . | 12       .         .         .         .    g.28851
 ATGGCGGCTCGGGAGCAGCA | GGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGA    c.1200
 M  A  A  R  E  Q  Q  |  V  Y  C  E  E  M  R  E  E  R  Q  D  R      p.400

          .         .         .         .         .         .       g.28911
 CTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAG       c.1260
 L  K  F  I  D  K  Q  L  E  L  L  A  Q  D  Y  K  L  R  I  K         p.420

          .         .        | 13.         .         .         .    g.29361
 CAGATTACGGAGGAAGTGGAGAGGCAG | GTGTCGACTGCAATGGCCGAGGAGATCAGGCGC    c.1320
 Q  I  T  E  E  V  E  R  Q   | V  S  T  A  M  A  E  E  I  R  R      p.440

          .         .         .         .         .         .       g.29421
 CTCTCTGTACTGGTGGACGATTACCAGATGGACTTCCACCCTTCTCCAGTAGTCCTCAAG       c.1380
 L  S  V  L  V  D  D  Y  Q  M  D  F  H  P  S  P  V  V  L  K         p.460

          .   | 14     .         .         .         .         .    g.29692
 GTTTATAAGAAT | GAGCTGCACCGCCACATAGAGGAAGGACTGGGTCGAAACATGTCTGAC    c.1440
 V  Y  K  N   | E  L  H  R  H  I  E  E  G  L  G  R  N  M  S  D      p.480

          .         .         .         .         .      | 15  .    g.30535
 CGCTGCTCCACGGCCATCACCAACTCCCTGCAGACCATGCAGCAGGACATGATAG | ATGGC    c.1500
 R  C  S  T  A  I  T  N  S  L  Q  T  M  Q  Q  D  M  I  D |   G      p.500

          .         .         .         .         .         .       g.30595
 TTGAAACCCCTCCTTCCTGTGTCTGTGCGGAGTCAGATAGACATGCTGGTCCCACGCCAG       c.1560
 L  K  P  L  L  P  V  S  V  R  S  Q  I  D  M  L  V  P  R  Q         p.520

          .         .         .         .         .         .       g.30655
 TGCTTCTCCCTCAACTATGACCTAAACTGTGACAAGCTGTGTGCTGACTTCCAGGAAGAC       c.1620
 C  F  S  L  N  Y  D  L  N  C  D  K  L  C  A  D  F  Q  E  D         p.540

          .         .         .         .         .         .       g.30715
 ATTGAGTTCCATTTCTCTCTCGGATGGACCATGCTGGTGAATAGGTTCCTGGGCCCCAAG       c.1680
 I  E  F  H  F  S  L  G  W  T  M  L  V  N  R  F  L  G  P  K         p.560

          .         .         .       | 16 .         .         .    g.31381
 AACAGCCGTCGGGCCTTGATGGGCTACAATGACCAG | GTCCAGCGTCCCATCCCTCTGACG    c.1740
 N  S  R  R  A  L  M  G  Y  N  D  Q   | V  Q  R  P  I  P  L  T      p.580

          .         .         .         .         .         .       g.31441
 CCAGCCAACCCCAGCATGCCCCCACTGCCACAGGGCTCGCTCACCCAGGAGGAGTTCATG       c.1800
 P  A  N  P  S  M  P  P  L  P  Q  G  S  L  T  Q  E  E  F  M         p.600

          .         .         .         .         .         .       g.31501
 GTTTCCATGGTTACCGGCCTGGCCTCCTTGACATCCAGGACCTCCATGGGCATTCTTGTT       c.1860
 V  S  M  V  T  G  L  A  S  L  T  S  R  T  S  M  G  I  L  V         p.620

          .   | 17     .         .         .         .         .    g.31920
 GTTGGAGGAGTG | GTGTGGAAGGCAGTGGGCTGGCGGCTCATTGCCCTCTCCTTTGGGCTC    c.1920
 V  G  G  V   | V  W  K  A  V  G  W  R  L  I  A  L  S  F  G  L      p.640

          .         .         .         .         .         .       g.31980
 TATGGCCTCCTCTACGTCTATGAGCGTCTGACCTGGACCACCAAGGCCAAGGAGAGGGCC       c.1980
 Y  G  L  L  Y  V  Y  E  R  L  T  W  T  T  K  A  K  E  R  A         p.660

          .         .         .         .         .         .       g.32040
 TTCAAGCGCCAGTTTGTGGAGCATGCCAGCGAGAAGCTGCAGCTTGTCATCAGCTACACT       c.2040
 F  K  R  Q  F  V  E  H  A  S  E  K  L  Q  L  V  I  S  Y  T         p.680

          .         .          | 18        .         .         .    g.34442
 GGCTCCAACTGCAGCCACCAAGTCCAGCA | GGAACTGTCTGGGACCTTTGCTCATCTGTGT    c.2100
 G  S  N  C  S  H  Q  V  Q  Q  |  E  L  S  G  T  F  A  H  L  C      p.700

          .         .         .         .         .         .       g.34502
 CAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAA       c.2160
 Q  Q  V  D  V  T  R  E  N  L  E  Q  E  I  A  A  M  N  K  K         p.720

          .         .         .         .     | 19   .         .    g.36331
 ATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAG | GAATAAAGCCGGTTGG    c.2220
 I  E  V  L  D  S  L  Q  S  K  A  K  L  L  R  |  N  K  A  G  W      p.740

          .         .         .         .         .                 g.36385
 TTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAG             c.2274
 L  D  S  E  L  N  M  F  T  H  Q  Y  L  Q  P  S  R  X               p.757

          .         .         .         .         .         .       g.36445
 tgggcacctgaggcggagtctgcgtggagaggggcggtgctgccagccctaagtgccatg       c.*60

          .         .         .         .         .         .       g.36505
 tgggctcccccaggggcacgtgtggctcctgccccctggccactgccaagagaatgaagc       c.*120

          .         .         .         .         .         .       g.36565
 acccagtctcgtaccattttgagccctccagcactacttattttcccccacctttgcctg       c.*180

          .         .         .         .         .         .       g.36625
 ctgttgctggaagagctggctcatacccccaaaggacactttcagcgacagctatggaca       c.*240

          .         .         .         .         .         .       g.36685
 gcatggtaccaaggagttaagttgaggctttttccagctttctctggttcatttgattgc       c.*300

          .         .         .         .         .         .       g.36745
 ttgataaggcctcaggatctcagcattgcacaatgcctcatggaagcctttgagggtatc       c.*360

          .         .         .         .         .         .       g.36805
 acacagacacccccaccttcctccagcctgtgcgcacctgccctccttgcagcccagcac       c.*420

          .         .         .         .         .         .       g.36865
 acctgcaggtgtaagggacgattggagtttcttcccagagagtctgtcccagaaggactg       c.*480

          .         .         .         .         .         .       g.36925
 tggcttgtgtgtgtccatctcgcctgttggctcagtgcttcatcccatttgcagagcctc       c.*540

          .         .         .         .         .         .       g.36985
 agacacgtcttggtggtgaggctcagttacccctgggcttaggctgaggcgggccctgtg       c.*600

          .         .         .         .         .         .       g.37045
 ctgggggtggtagaaaggatgctgctgaggcagctggaggagtgggagtagctcagaggg       c.*660

          .         .         .         .         .         .       g.37105
 gagggctgttggatgtatggggagctggcagagcaggtggcagtcactgggacaaggagg       c.*720

          .         .         .         .         .         .       g.37165
 gacttgcctctcttctcattattgtgtcctttgctttagtgtcagtcctggacttgtgca       c.*780

          .         .         .         .         .         .       g.37225
 ggcctgttttgtgtagatctgttttggaagatggcatggtctaggtggttgaaggatgta       c.*840

          .         .         .         .         .         .       g.37285
 gtagaaggatggatggtggaaggtggggacgttggtggctggctgaggtgcatgggcccc       c.*900

          .         .         .         .         .         .       g.37345
 acacaggacagctggagaatgggccgtccacttggcctcgttctgcgaggggctcatggg       c.*960

          .         .         .         .         .         .       g.37405
 tctgagagcccccacccactaggcttgattgcatccctgttgtgccctttaagagacatg       c.*1020

          .         .         .         .         .         .       g.37465
 tttccaccccacccccaaccttgtcccaagtgccctggactaaatttcctgtgccagtga       c.*1080

          .         .         .         .         .         .       g.37525
 ctgcagttggccaagggacaatgtggaaaacccagtgtccatctttccaccctccctgat       c.*1140

          .         .         .         .         .         .       g.37585
 ctccagaaccttcgactgacccccttgtctttatgctgatgttgagttttgggattgtta       c.*1200

          .         .         .         .         .         .       g.37645
 ctggttgaagtgggggcagatgcctgtcaccaaggtgttgactgtgtgagaaaagcagtt       c.*1260

          .         .         .         .         .         .       g.37705
 tgggtgacaaatcctgtgtggcacaagttggatcgcttcctagaaataagcaacacctct       c.*1320

          .         .         .         .         .         .       g.37765
 cccaaaaagcagcccacaaggcaggggcccagcagcccagccatcactcatctttgagga       c.*1380

          .         .         .         .         .         .       g.37825
 aatgagttggtagcctctgtgcactgtttggtggccacatcacaggtgatgtcctgttca       c.*1440

          .         .         .         .         .         .       g.37885
 catacctgcttgtatttaaagccctcagtctgtcctgttgtgtggggcgaagtgatggac       c.*1500

          .         .         .         .         .         .       g.37945
 tctgccaggtggacatgctgtgggtggatgttcccggcgtgtgccgggcctgaatggaca       c.*1560

          .         .         .         .         .         .       g.38005
 ggggccacttcacagcatgtcagggaaaatcactgtcacacaattccaatggattttgtg       c.*1620

          .         .         .         .         .         .       g.38065
 ctctttttgaaaaaaaaaaattctttagcgtaaacatgaattttttttcaatgtagcccc       c.*1680

          .         .         .         .         .         .       g.38125
 tggggaatgaatgaaattttgagcttcttcaatacgtaaaattaaatttataccactgag       c.*1740

          .         .         .         .         .         .       g.38185
 ggagagaccctttctgaaagaagtatggccaaaagcactttaatgctgctgacattgttg       c.*1800

          .         .         .         .         .         .       g.38245
 tttttatgttcatttgctggagcgcaagacgtgctgacacagtgagttttctctgatgta       c.*1860

          .         .         .         .         .         .       g.38305
 tttaaggtgatgtatttgcttgagttactcctgtatcattgctcataatattggaaacta       c.*1920

          .         .         .                                     g.38335
 aaataaaacctagttggaaatcctttgtga                                     c.*1950

 (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 10th nucleotide is indicated by a "." above the sequence. The Mitofusin 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 10th 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.

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