phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2) - coding DNA reference sequence

(used for variant description)

(last modified October 28, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_006567.3 in the FARS2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000006.11, covering FARS2 transcript NM_006567.3.

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

 (upstream sequence)
                               .         .         .                g.5031
                              tttcaagggtgacttgatttcgcctgatcct       c.-301

 .         .         .         .         .         .                g.5091
 ggtcggcagggtggggtttcttggcattcctcaggccgggggatgcgacgtctgggtgtg       c.-241

 .         .         .         .         .         .                g.5151
 gaggtgatgagctaggggttctgtggcactccggctctgctcagggcgacctgcgtaggg       c.-181

 .         .         .         .         .         .                g.5211
 gcctctggggcaggcccgctttctgtcaaaatggcagcgcccagcgtgcgcgggtatctc       c.-121

 .         .         .         .         .         .                g.5271
 tgaagttggggtttaagattcttgcccgtgagagcgaacgagcctgccgtacttctgatt       c.-61

 .         .         .         .         | 02         .             g.112220
 ttgaaacacctgggtctgggcttcccgggcgagcggtgg | aacctgtgagaagtttctaca    c.-1

          .         .         .         .         .         .       g.112280
 ATGGTGGGCTCAGCTCTCAGGAGAGGTGCCCATGCATATGTCTACCTGGTGAGTAAGGCC       c.60
 M  V  G  S  A  L  R  R  G  A  H  A  Y  V  Y  L  V  S  K  A         p.20

          .         .         .         .         .         .       g.112340
 AGTCACATCTCCAGAGGCCATCAGCACCAGGCCTGGGGATCGAGGCCTCCTGCAGCAGAG       c.120
 S  H  I  S  R  G  H  Q  H  Q  A  W  G  S  R  P  P  A  A  E         p.40

          .         .         .         .         .         .       g.112400
 TGTGCCACCCAAAGAGCTCCAGGCAGTGTGGTGGAGCTGCTGGGCAAATCCTACCCTCAG       c.180
 C  A  T  Q  R  A  P  G  S  V  V  E  L  L  G  K  S  Y  P  Q         p.60

          .         .         .         .         .         .       g.112460
 GACGACCACAGCAACCTCACCCGGAAGGTCCTCACCAGAGTTGGCAGGAACCTGCACAAC       c.240
 D  D  H  S  N  L  T  R  K  V  L  T  R  V  G  R  N  L  H  N         p.80

          .         .         .         .         .         .       g.112520
 CAGCAGCATCACCCTCTGTGGCTGATCAAGGAGAGGGTGAAGGAGCACTTCTACAAGCAG       c.300
 Q  Q  H  H  P  L  W  L  I  K  E  R  V  K  E  H  F  Y  K  Q         p.100

          .         .         .         .         .         .       g.112580
 TATGTGGGCCGCTTTGGGACCCCGTTGTTCTCGGTCTACGACAACCTTTCTCCAGTGGTC       c.360
 Y  V  G  R  F  G  T  P  L  F  S  V  Y  D  N  L  S  P  V  V         p.120

          .         .         .         .         .         .       g.112640
 ACGACCTGGCAGAACTTTGACAGCCTGCTCATCCCAGCTGATCACCCCAGCAGGAAGAAG       c.420
 T  T  W  Q  N  F  D  S  L  L  I  P  A  D  H  P  S  R  K  K         p.140

          .         .         .         .         .         .       g.112700
 GGGGACAACTATTACCTGAATCGGACTCACATGCTGAGAGCGCACACGTCTGCACACCAG       c.480
 G  D  N  Y  Y  L  N  R  T  H  M  L  R  A  H  T  S  A  H  Q         p.160

          .         .         .         .         .         .       g.112760
 TGGGACTTGCTGCACGCGGGACTGGATGCCTTCCTGGTGGTGGGTGATGTCTACAGGCGT       c.540
 W  D  L  L  H  A  G  L  D  A  F  L  V  V  G  D  V  Y  R  R         p.180

          .         .         .         .         .         .       g.112820
 GACCAGATCGACTCCCAGCACTACCCTATTTTCCACCAGCTGGAGGCCGTGCGGCTCTTC       c.600
 D  Q  I  D  S  Q  H  Y  P  I  F  H  Q  L  E  A  V  R  L  F         p.200

          .   | 03     .         .         .         .         .    g.148239
 TCCAAGCATGAG | TTATTTGCTGGTATAAAGGATGGAGAAAGCCTGCAGCTCTTTGAACAA    c.660
 S  K  H  E   | L  F  A  G  I  K  D  G  E  S  L  Q  L  F  E  Q      p.220

          .         .         .         .         .         .       g.148299
 AGTTCTCGCTCTGCGCATAAACAAGAGACACACACCATGGAGGCCGTGAAGCTTGTAGAG       c.720
 S  S  R  S  A  H  K  Q  E  T  H  T  M  E  A  V  K  L  V  E         p.240

          .         .         .         .         .   | 04     .    g.174698
 TTTGATCTTAAGCAAACGCTTACCAGGCTCATGGCACATCTTTTTGGAGATG | AGCTGGAG    c.780
 F  D  L  K  Q  T  L  T  R  L  M  A  H  L  F  G  D  E |   L  E      p.260

          .         .         .         .         .         .       g.174758
 ATAAGATGGGTAGACTGCTACTTCCCTTTTACACATCCTTCCTTTGAGATGGAGATCAAC       c.840
 I  R  W  V  D  C  Y  F  P  F  T  H  P  S  F  E  M  E  I  N         p.280

          .         .         .         .         .         .       g.174818
 TTTCATGGAGAATGGCTGGAAGTTCTTGGCTGCGGGGTGATGGAACAACAACTGGTCAAT       c.900
 F  H  G  E  W  L  E  V  L  G  C  G  V  M  E  Q  Q  L  V  N         p.300

      | 05   .         .         .         .         .         .    g.288885
 TCAG | CTGGTGCTCAAGACCGAATCGGCTGGGCTTTTGGCCTAGGATTAGAAAGGCTAGCC    c.960
 S  A |   G  A  Q  D  R  I  G  W  A  F  G  L  G  L  E  R  L  A      p.320

          .         .         .         .         .         .       g.288945
 ATGATCCTCTACGACATCCCTGATATCCGTCTCTTCTGGTGTGAGGACGAGCGCTTCCTG       c.1020
 M  I  L  Y  D  I  P  D  I  R  L  F  W  C  E  D  E  R  F  L         p.340

          .         .         .         .      | 06  .         .    g.356833
 AAGCAGTTCTGTGTATCCAACATTAATCAGAAGGTGAAGTTTCAG | CCTCTTAGCAAATAT    c.1080
 K  Q  F  C  V  S  N  I  N  Q  K  V  K  F  Q   | P  L  S  K  Y      p.360

          .         .         .         .         .         .       g.356893
 CCGGCTGTGATCAATGATATTTCATTCTGGTTGCCCTCTGAGAATTACGCAGAAAATGAT       c.1140
 P  A  V  I  N  D  I  S  F  W  L  P  S  E  N  Y  A  E  N  D         p.380

          .         .         .         .         .         .       g.356953
 TTCTATGACTTAGTCCGAACAATTGGAGGAGACCTGGTGGAAAAGGTTGATCTCATAGAC       c.1200
 F  Y  D  L  V  R  T  I  G  G  D  L  V  E  K  V  D  L  I  D         p.400

          .        | 07.         .         .         .         .    g.514983
 AAGTTTGTACATCCAAA | GACGCACAAGACCAGCCACTGCTACCGCATCACGTACCGCCAC    c.1260
 K  F  V  H  P  K  |  T  H  K  T  S  H  C  Y  R  I  T  Y  R  H      p.420

          .         .         .         .         .         .       g.515043
 ATGGAACGGACTCTGTCCCAGAGAGAGGTCAGGCACATCCACCAGGCCTTGCAGGAGGCT       c.1320
 M  E  R  T  L  S  Q  R  E  V  R  H  I  H  Q  A  L  Q  E  A         p.440

          .         .         .                                     g.515079
 GCAGTCCAGCTGTTGGGTGTGGAGGGCAGGTTCTGA                               c.1356
 A  V  Q  L  L  G  V  E  G  R  F  X                                 p.451

          .         .         .         .         .         .       g.515139
 tgtcaccacttcactcaggctgcagccctcttggggctccaggatttgctgaaagagaaa       c.*60

          .         .         .         .         .         .       g.515199
 aagatatggtttgtgaactggggcatcaatcatcttttgataaatggatcagttttagga       c.*120

          .         .         .                                     g.515233
 ctttcagaaaataaaagatcgctcttgaaaagct                                 c.*154

 (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 Phenylalanyl-tRNA synthetase 2, 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.