Ts translation elongation factor, mitochondrial (TSFM) - coding DNA reference sequence

(used for variant description)

(last modified April 29, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_001172696.1 in the TSFM gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016971.1, covering TSFM transcript NM_001172696.1.

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

 (upstream sequence)
           .         .         .         .         .                g.5057
    gtaggtttgttgcctcaccagtgcgcccgccggagggtgtttatcgcggctagagag       c.-1

          .         .         .         .         .        | 02.    g.5368
 ATGTCGCTGCTGCGGTCGCTGCGCGTGTTTCTGGTCGCGCGGACCGGGAGCTACCCG | GCT    c.60
 M  S  L  L  R  S  L  R  V  F  L  V  A  R  T  G  S  Y  P   | A      p.20

          .         .         .         .         .         .       g.5428
 GGGTCTCTTCTGCGTCAGTCGCCCCAGCCAAGGCACACATTTTATGCTGGGCCCCGTCTG       c.120
 G  S  L  L  R  Q  S  P  Q  P  R  H  T  F  Y  A  G  P  R  L         p.40

          .         .         .         .         .         .       g.5488
 TCTGCCTCGGCCTCCAGCAAGGAGCTCCTCATGAAGCTGCGGCGGAAAACAGGCTACTCC       c.180
 S  A  S  A  S  S  K  E  L  L  M  K  L  R  R  K  T  G  Y  S         p.60

          .         .         .         .         .  | 03      .    g.8427
 TTTGTAAATTGCAAGAAAGCTCTGGAGACTTGTGGCGGGGACCTCAAACAG | GCAGAGATC    c.240
 F  V  N  C  K  K  A  L  E  T  C  G  G  D  L  K  Q   | A  E  I      p.80

          .         .         .         .         .         .       g.8487
 TGGCTCCACAAGGAGGCCCAGAAGGAGGGCTGGAGCAAAGCTGCCAAGCTCCAAGGGAGG       c.300
 W  L  H  K  E  A  Q  K  E  G  W  S  K  A  A  K  L  Q  G  R         p.100

          .         .         .         .         .         .       g.8547
 AAGACCAAAGAAGGCCTGATTGGGCTGTTGCAGGAAGGAAACACAACTGTATTAGTAGAG       c.360
 K  T  K  E  G  L  I  G  L  L  Q  E  G  N  T  T  V  L  V  E         p.120

  | 04       .         .         .         .         .         .    g.9355
  | GTAAACTGTGAGACAGATTTTGTTTCTAGAAATTTAAAATTTCAACTGTTGGTCCAGCAA    c.420
  | V  N  C  E  T  D  F  V  S  R  N  L  K  F  Q  L  L  V  Q  Q      p.140

          .         .         .         .         .         .       g.9415
 GTAGCCCTTGGAACCATGATGCATTGTCAGACCCTAAAGGATCAACCCTCTGCATACAGT       c.480
 V  A  L  G  T  M  M  H  C  Q  T  L  K  D  Q  P  S  A  Y  S         p.160

     | 05    .         .         .         .         .         .    g.14277
 AAA | GTGCAGTGGCTCACGCCTGTAAACCTAGCACTTTGGGAGGCTGAAGCAGGTGGATCA    c.540
 K   | V  Q  W  L  T  P  V  N  L  A  L  W  E  A  E  A  G  G  S      p.180

        | 06 .         .         .         .         .         .    g.15295
 CTTGAG | GGTTTCTTGAATTCCTCTGAGCTTTCTGGACTTCCAGCTGGGCCTGACAGAGAA    c.600
 L  E   | G  F  L  N  S  S  E  L  S  G  L  P  A  G  P  D  R  E      p.200

          .         .         .     | 07   .         .         .    g.18458
 GGCTCACTCAAGGATCAGTTGGCTTTAGCAATTG | GAAAACTGGGAGAAAACATGATTCTT    c.660
 G  S  L  K  D  Q  L  A  L  A  I  G |   K  L  G  E  N  M  I  L      p.220

          .         .         .         .         .         .       g.18518
 AAACGAGCTGCATGGGTGAAGGTGCCATCTGGGTTCTACGTTGGCTCTTATGTCCACGGA       c.720
 K  R  A  A  W  V  K  V  P  S  G  F  Y  V  G  S  Y  V  H  G         p.240

          .         .         .         .         .         .       g.18578
 GCAATGCAGAGTCCCTCACTTCACAAGCTGGTGCTGGGGAAGTATGGGGCCCTGGTCATC       c.780
 A  M  Q  S  P  S  L  H  K  L  V  L  G  K  Y  G  A  L  V  I         p.260

          .         .         .         .         .         .       g.18638
 TGTGAGACGTCTGAACAGAAAACAAACCTTGAAGACGTTGGCCGCCGCCTTGGGCAGCAT       c.840
 C  E  T  S  E  Q  K  T  N  L  E  D  V  G  R  R  L  G  Q  H         p.280

          .         .         .         .         .         .       g.18698
 GTGGTGGGCATGGCCCCCCTCTCTGTTGGCTCCCTGGACGATGAGCCTGGGGGAGAGGCA       c.900
 V  V  G  M  A  P  L  S  V  G  S  L  D  D  E  P  G  G  E  A         p.300

          .         .         .         .         .         .       g.18758
 GAGACTAAGATGCTGTCCCAGCCGTATTTGCTGGATCCCTCCATTACCTTGGGGCAGTAT       c.960
 E  T  K  M  L  S  Q  P  Y  L  L  D  P  S  I  T  L  G  Q  Y         p.320

          .         .         .         .         .         .       g.18818
 GTGCAGCCTCAGGGGGTGTCGGTAGTAGACTTTGTGCGGTTTGAATGTGGAGAAGGTGAA       c.1020
 V  Q  P  Q  G  V  S  V  V  D  F  V  R  F  E  C  G  E  G  E         p.340

          .         .                                               g.18839
 GAGGCAGCAGAAACTGAATAG                                              c.1041
 E  A  A  E  T  E  X                                                p.346

          .         .         .         .         .         .       g.18899
 gttccagagacttttggcccaggaggaatatttacttttagctctggacatcattacaaa       c.*60

          .         .         .         .         .         .       g.18959
 aaggaatatttcccaaacctcttcagaccgagaatgcatgggtaaaattattaaatagtt       c.*120

          .         .         .         .         .         .       g.19019
 gtataataaaaataattttttccttgtttgcgtaatactggatttagcttttctgtgcct       c.*180

          .         .         .         .         .         .       g.19079
 ttcaaaaacaacaggtgggccttattgacgtgatagtgtcgtggagaacaggcatcaaca       c.*240

          .         .         .         .         .         .       g.19139
 atactgctgctcccttcaacatagatttattatggtatttctgaaatttctaacttatat       c.*300

          .         .         .         .         .         .       g.19199
 gttctgtcttacaccttttatgacatagaactcttttgttctgtttttgctttgcgacac       c.*360

          .         .         .         .         .         .       g.19259
 tgtgaaccgtgcttctgcctcggaacctccctagttatattacttgtgccacatggattt       c.*420

          .         .         .         .         .         .       g.19319
 ctttaggattattgattcaaacctagagttgtctggaaaatgtgggttctcttctttgtg       c.*480

          .         .         .         .         .         .       g.19379
 attgtctgtagtatgctttgaaggtgctctgcagtggtagacacactggttctggcctca       c.*540

          .         .         .         .         .         .       g.19439
 tttaatgaaattaataacacatgcccctatttctcttttggatgatgtgtgggtgggtgg       c.*600

          .         .         .         .         .         .       g.19499
 gtactgaggtttcctggccagctgtaaggcagattttgacattcttgtgccagaaacaga       c.*660

          .         .         .         .         .         .       g.19559
 aattagagtagtccagttacccagagagctcacttaacattgcctctttacttccccagt       c.*720

          .         .         .         .         .         .       g.19619
 actgaaacatttcttcaagtataacataaaattaccgtaacaagcagacccagaatactg       c.*780

          .         .         .         .         .         .       g.19679
 aaaataactccatttgttcattataggtatctttatttgaaaagtgaaaaatgctttgac       c.*840

          .         .         .         .         .         .       g.19739
 acattacagatctgggtatttggattttgcctatggagtgcatatatgatttcaatgatt       c.*900

          .         .         .         .         .         .       g.19799
 tacaggctaaatagattttagaaataatcatcttaaaattgaaaacaaaggtaggtcctg       c.*960

          .         .         .         .                           g.19843
 gtataatattaaacataaagttattaaacattttaagcattgtt                       c.*1004

 (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 Ts translation elongation factor, mitochondrial 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.