glycyl-tRNA synthetase (GARS) - coding DNA reference sequence

(used for mutation description)

(last modified November 10, 2012)


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

The sequence was taken from NG_007942.1, covering GARS transcript NM_002047.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5057
    gtcactcgtataaaaacctatgctttgaaggttctcgtgtgtctcggcctgcaggtc       c.-301

 .         .         .         .         .         .                g.5117
 tcgctcagagctgtgtccctgaacatccaccctgctggggtggcttgacgcacttctgtg       c.-241

 .         .         .         .         .         .                g.5177
 caaatctgttcgctcgcaaccctacctacctctctcccgaaccggagaaaaccttcggcg       c.-181

 .         .         .         .         .         .                g.5237
 gggtccttccgggttttgtgtcgaatctgcggcggcgacccggcgccgcgtcacgcggtg       c.-121

 .         .         .         .         .         .                g.5297
 gtgaatgtgcggcagcacgcgcgccgcgtcgtttacgcggcgatttcatcatgctccgag       c.-61

 .         .         .         .         .         .                g.5357
 ccgggcggcgcgcgccgcttccgtcgccaccctctctggacagcccagggccgcaggctc       c.-1

          .         .         .         .         .         .       g.5417
 ATGCCCTCTCCGCGTCCAGTGCTGCTTAGAGGTGCTCGCGCCGCTCTGCTGCTGCTGCTG       c.60
 M  P  S  P  R  P  V  L  L  R  G  A  R  A  A  L  L  L  L  L         p.20

          .         .         .         .         .         .       g.5477
 CCGCCCCGGCTCTTAGCCCGACCCTCGCTCCTGCTCCGCCGGTCCCTCAGCGCGGCCTCC       c.120
 P  P  R  L  L  A  R  P  S  L  L  L  R  R  S  L  S  A  A  S         p.40

          .         .         .         .         .         .       g.5537
 TGCCCCCCGATCTCCTTGCCCGCCGCCGCCTCCCGGAGCAGCATGGACGGCGCGGGGGCT       c.180
 C  P  P  I  S  L  P  A  A  A  S  R  S  S  M  D  G  A  G  A         p.60

          .         .         .         .   | 02     .         .    g.9249
 GAGGAGGTGCTGGCACCTCTGAGGCTAGCAGTGCGCCAGCAG | GGAGATCTTGTGCGAAAA    c.240
 E  E  V  L  A  P  L  R  L  A  V  R  Q  Q   | G  D  L  V  R  K      p.80

          .         .         .         .         .         .       g.9309
 CTCAAAGAAGATAAAGCACCCCAAGTAGACGTAGACAAAGCAGTGGCTGAGCTCAAAGCC       c.300
 L  K  E  D  K  A  P  Q  V  D  V  D  K  A  V  A  E  L  K  A         p.100

          .         .     | 03   .         .         .         .    g.10418
 CGCAAGAGGGTTCTGGAAGCAAAG | GAGCTGGCGTTACAGCCCAAAGATGATATTGTAGAC    c.360
 R  K  R  V  L  E  A  K   | E  L  A  L  Q  P  K  D  D  I  V  D      p.120

          .         .         .         .         .         .       g.10478
 CGAGCAAAAATGGAAGATACCCTGAAGAGGAGGTTTTTCTATGATCAAGCTTTTGCTATT       c.420
 R  A  K  M  E  D  T  L  K  R  R  F  F  Y  D  Q  A  F  A  I         p.140

         | 04.         .         .         .         .         .    g.11547
 TATGGAG | GTGTTAGTGGTCTGTATGACTTTGGGCCAGTTGGCTGTGCTTTGAAGAACAAT    c.480
 Y  G  G |   V  S  G  L  Y  D  F  G  P  V  G  C  A  L  K  N  N      p.160

          .         .         .         .         .         .       g.11607
 ATTATTCAGACCTGGAGGCAGCACTTTATCCAAGAGGAACAGATCCTGGAGATCGATTGC       c.540
 I  I  Q  T  W  R  Q  H  F  I  Q  E  E  Q  I  L  E  I  D  C         p.180

          .         .          | 05        .         .         .    g.13500
 ACCATGCTCACCCCTGAGCCAGTTTTAAA | GACCTCTGGCCATGTAGACAAATTTGCTGAC    c.600
 T  M  L  T  P  E  P  V  L  K  |  T  S  G  H  V  D  K  F  A  D      p.200

          .         .         .         .         .         | 06    g.13933
 TTCATGGTGAAAGACGTAAAAAATGGAGAATGTTTTCGTGCTGACCATCTATTAAAAG | CT    c.660
 F  M  V  K  D  V  K  N  G  E  C  F  R  A  D  H  L  L  K  A |       p.220

          .         .         .         .         .         .       g.13993
 CATTTACAGAAATTGATGTCTGATAAGAAGTGTTCTGTCGAAAAGAAATCAGAAATGGAA       c.720
 H  L  Q  K  L  M  S  D  K  K  C  S  V  E  K  K  S  E  M  E         p.240

          .      | 07  .         .         .         .         .    g.20065
 AGTGTTTTGGCCCAG | CTTGATAACTATGGACAGCAAGAACTTGCGGATCTTTTTGTGAAC    c.780
 S  V  L  A  Q   | L  D  N  Y  G  Q  Q  E  L  A  D  L  F  V  N      p.260

          .         .         .         .         .         .       g.20125
 TATAATGTAAAATCTCCCATTACTGGAAATGATCTATCCCCTCCAGTGTCTTTTAACTTA       c.840
 Y  N  V  K  S  P  I  T  G  N  D  L  S  P  P  V  S  F  N  L         p.280

          .         .         .         .  | 08      .         .    g.22550
 ATGTTCAAGACTTTCATTGGGCCTGGAGGAAACATGCCTGG | GTACTTGAGACCAGAAACT    c.900
 M  F  K  T  F  I  G  P  G  G  N  M  P  G  |  Y  L  R  P  E  T      p.300

          .         .         .         .         .         .       g.22610
 GCACAGGGGATTTTCTTGAATTTCAAACGACTTTTGGAGTTCAACCAAGGAAAGTTGCCT       c.960
 A  Q  G  I  F  L  N  F  K  R  L  L  E  F  N  Q  G  K  L  P         p.320

          .         .         .         .         .         .       g.22670
 TTTGCTGCTGCCCAGATTGGAAATTCTTTTAGAAATGAGATCTCCCCTCGATCTGGACTG       c.1020
 F  A  A  A  Q  I  G  N  S  F  R  N  E  I  S  P  R  S  G  L         p.340

          .  | 09      .         .         .         .         .    g.26380
 ATCAGAGTCAG | AGAATTCACAATGGCAGAAATTGAGCACTTTGTAGATCCCAGTGAGAAA    c.1080
 I  R  V  R  |  E  F  T  M  A  E  I  E  H  F  V  D  P  S  E  K      p.360

          .         .         .         .         .         .       g.26440
 GACCACCCCAAGTTCCAGAATGTGGCAGACCTTCACCTTTATTTGTATTCAGCAAAAGCC       c.1140
 D  H  P  K  F  Q  N  V  A  D  L  H  L  Y  L  Y  S  A  K  A         p.380

          .         .         .         .         .     | 10   .    g.27555
 CAGGTCAGCGGACAGTCCGCTCGGAAAATGCGCCTGGGAGATGCTGTTGAACAG | GGTGTG    c.1200
 Q  V  S  G  Q  S  A  R  K  M  R  L  G  D  A  V  E  Q   | G  V      p.400

          .         .         .         .         .         .       g.27615
 ATTAATAACACAGTATTAGGCTATTTCATTGGCCGCATCTACCTCTACCTCACGAAGGTT       c.1260
 I  N  N  T  V  L  G  Y  F  I  G  R  I  Y  L  Y  L  T  K  V         p.420

          .         .         .         .         .         .       g.27675
 GGAATATCTCCAGATAAACTCCGCTTCCGGCAGCACATGGAGAATGAGATGGCCCATTAT       c.1320
 G  I  S  P  D  K  L  R  F  R  Q  H  M  E  N  E  M  A  H  Y         p.440

          .         .         .          | 11        .         .    g.31849
 GCCTGTGACTGTTGGGATGCAGAATCCAAAACATCCTAC | GGTTGGATTGAGATTGTTGGA    c.1380
 A  C  D  C  W  D  A  E  S  K  T  S  Y   | G  W  I  E  I  V  G      p.460

          .         .         .         .         .         .       g.31909
 TGTGCTGATCGTTCCTGTTATGACCTCTCCTGTCATGCACGAGCCACCAAAGTCCCACTT       c.1440
 C  A  D  R  S  C  Y  D  L  S  C  H  A  R  A  T  K  V  P  L         p.480

          .         .        | 12.         .         .         .    g.32785
 GTAGCTGAGAAACCTCTGAAAGAACCC | AAAACAGTCAATGTTGTTCAGTTTGAACCCAGT    c.1500
 V  A  E  K  P  L  K  E  P   | K  T  V  N  V  V  Q  F  E  P  S      p.500

          .         .         .         .         .         .       g.32845
 AAGGGAGCAATTGGTAAGGCATATAAGAAGGATGCAAAACTGGTGATGGAGTATCTTGCC       c.1560
 K  G  A  I  G  K  A  Y  K  K  D  A  K  L  V  M  E  Y  L  A         p.520

          .         .         .         .         .    | 13    .    g.36676
 ATTTGTGATGAGTGCTACATTACAGAAATGGAGATGCTGCTGAATGAGAAAGG | GGAATTC    c.1620
 I  C  D  E  C  Y  I  T  E  M  E  M  L  L  N  E  K  G  |  E  F      p.540

          .         .         .         .         .         .       g.36736
 ACAATTGAAACTGAAGGGAAAACATTTCAGTTAACAAAAGACATGATCAATGTGAAGAGA       c.1680
 T  I  E  T  E  G  K  T  F  Q  L  T  K  D  M  I  N  V  K  R         p.560

          .          | 14        .         .         .         .    g.39036
 TTCCAGAAAACACTATATG | TGGAAGAAGTTGTTCCGAATGTAATTGAACCTTCCTTCGGC    c.1740
 F  Q  K  T  L  Y  V |   E  E  V  V  P  N  V  I  E  P  S  F  G      p.580

          .         .         .         .         .         .       g.39096
 CTGGGTAGGATCATGTATACGGTATTTGAACATACATTCCATGTACGAGAAGGAGATGAA       c.1800
 L  G  R  I  M  Y  T  V  F  E  H  T  F  H  V  R  E  G  D  E         p.600

           | 15        .         .         .         .         .    g.41934
 CAGAGAACA | TTCTTCAGTTTCCCTGCTGTAGTTGCTCCATTCAAATGTTCCGTCCTCCCA    c.1860
 Q  R  T   | F  F  S  F  P  A  V  V  A  P  F  K  C  S  V  L  P      p.620

          .         .         .         .    | 16    .         .    g.42699
 CTGAGCCAAAACCAGGAGTTCATGCCATTTGTCAAGGAATTAT | CGGAAGCCCTGACCAGG    c.1920
 L  S  Q  N  Q  E  F  M  P  F  V  K  E  L  S |   E  A  L  T  R      p.640

          .         .         .         .         .         .       g.42759
 CATGGAGTATCTCACAAAGTAGACGATTCCTCTGGGTCAATCGGAAGGCGCTATGCCAGG       c.1980
 H  G  V  S  H  K  V  D  D  S  S  G  S  I  G  R  R  Y  A  R         p.660

          .         .         .         .         .         .       g.42819
 ACTGATGAGATTGGCGTGGCTTTTGGTGTCACCATTGACTTTGACACAGTGAACAAGACC       c.2040
 T  D  E  I  G  V  A  F  G  V  T  I  D  F  D  T  V  N  K  T         p.680

          .         .         .         .         .     | 17   .    g.44176
 CCCCACACTGCAACTCTGAGGGACCGTGACTCAATGCGGCAGATAAGAGCAGAG | ATCTCT    c.2100
 P  H  T  A  T  L  R  D  R  D  S  M  R  Q  I  R  A  E   | I  S      p.700

          .         .         .         .         .         .       g.44236
 GAGCTGCCCAGCATAGTCCAAGACCTAGCCAATGGCAACATCACATGGGCTGATGTGGAG       c.2160
 E  L  P  S  I  V  Q  D  L  A  N  G  N  I  T  W  A  D  V  E         p.720

          .         .         .         .         .         .       g.44296
 GCCAGGTATCCTCTGTTTGAAGGGCAAGAGACTGGTAAAAAAGAGACAATCGAGGAATGA       c.2220
 A  R  Y  P  L  F  E  G  Q  E  T  G  K  K  E  T  I  E  E  X         p.739

          .         .         .         .         .         .       g.44356
 ggacaattttgacaacttttgaccacttgcgctaataaaaaaaaaaaaaaactactctta       c.*60

          .         .         .         .         .         .       g.44416
 tgtccactttacaaaagaaaacagcattgtgattactcccagggaccgtattttatcttc       c.*120

          .         .         .         .         .                 g.44469
 agtggctgcctgattttacccccacaattaaagttgaaggaatcctgaacaaa              c.*173

 (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 Glycyl-tRNA synthetase 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.

Powered by LOVD v.2.0 Build 34
©2004-2012 Leiden University Medical Center