GSS glutathione synthetase (GSS) - coding DNA reference sequence

(used for mutation description)

(last modified December 2, 2013)

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

The sequence was taken from NG_008848.1, covering GSS transcript NM_000178.2.

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

(upstream sequence) 
                                         .         .                g.20
                                         gaggccccgccccctgagcc       c.-61

 .         .         .         .         .         .  | 02          g.3946
 tgggtagcggcgcgagggccgggagaaccgttcgcggaggaaaggcgaacta | gtgttggg    c.-1

          .         .         .         .         .         .       g.4006
 ATGGCCACCAACTGGGGGAGCCTCTTGCAGGATAAACAGCAGCTAGAGGAGCTGGCACGG       c.60
 M  A  T  N  W  G  S  L  L  Q  D  K  Q  Q  L  E  E  L  A  R         p.20

          .         .         .         .         .         .       g.4066
 CAGGCCGTGGACCGGGCCCTGGCTGAGGGAGTATTGCTGAGGACCTCACAGGAGCCCACT       c.120
 Q  A  V  D  R  A  L  A  E  G  V  L  L  R  T  S  Q  E  P  T         p.40

           | 03        .         .         .         .         .    g.9751
 TCCTCGGAG | GTGGTGAGCTATGCCCCATTCACGCTCTTCCCCTCACTGGTCCCCAGTGCC    c.180
 S  S  E   | V  V  S  Y  A  P  F  T  L  F  P  S  L  V  P  S  A      p.60

          .         .         .         .         .         .       g.9811
 CTGCTGGAGCAAGCCTATGCTGTGCAGATGGACTTCAACCTGCTAGTGGATGCTGTCAGC       c.240
 L  L  E  Q  A  Y  A  V  Q  M  D  F  N  L  L  V  D  A  V  S         p.80

          .         .         .      | 04  .         .         .    g.12817
 CAGAACGCTGCCTTCCTGGAGCAAACTCTTTCCAG | CACCATCAAACAGGATGACTTTACC    c.300
 Q  N  A  A  F  L  E  Q  T  L  S  S  |  T  I  K  Q  D  D  F  T      p.100

          .         .         .         .         .  | 05      .    g.13180
 GCTCGTCTCTTTGACATCCACAAGCAAGTCCTAAAAGAGGGCATTGCCCAG | ACTGTGTTC    c.360
 A  R  L  F  D  I  H  K  Q  V  L  K  E  G  I  A  Q   | T  V  F      p.120

          .         .         .         .         .         .       g.13240
 CTGGGCCTGAATCGCTCAGACTACATGTTCCAGCGCAGCGCAGATGGCTCCCCAGCCCTG       c.420
 L  G  L  N  R  S  D  Y  M  F  Q  R  S  A  D  G  S  P  A  L         p.140

          .         .         .         .         .         .       g.13300
 AAACAGATCGAAATCAACACCATCTCTGCCAGCTTTGGGGGCCTGGCCTCCCGGACCCCA       c.480
 K  Q  I  E  I  N  T  I  S  A  S  F  G  G  L  A  S  R  T  P         p.160

          .  | 06      .         .         .         .         .    g.14018
 GCTGTGCACCG | ACATGTTCTCAGTGTCCTGAGTAAGACCAAAGAAGCTGGCAAGATCCTC    c.540
 A  V  H  R  |  H  V  L  S  V  L  S  K  T  K  E  A  G  K  I  L      p.180

          .         .         .         .         .         .       g.14078
 TCTAATAATCCCAGCAAGGGACTGGCCCTGGGAATTGCCAAAGCCTGGGAGCTCTACGGC       c.600
 S  N  N  P  S  K  G  L  A  L  G  I  A  K  A  W  E  L  Y  G         p.200

          | 07         .         .         .         .         .    g.18827
 TCACCCAA | TGCTCTGGTGCTACTGATTGCTCAAGAGAAGGAAAGAAACATATTTGACCAG    c.660
 S  P  N  |  A  L  V  L  L  I  A  Q  E  K  E  R  N  I  F  D  Q      p.220

          .         .          | 08        .         .         .    g.18989
 CGTGCCATAGAGAATGAGCTACTGGCCAG | GAACATCCATGTGATCCGACGAACATTTGAA    c.720
 R  A  I  E  N  E  L  L  A  R  |  N  I  H  V  I  R  R  T  F  E      p.240

          .         .         .         .        | 09.         .    g.20169
 GATATCTCTGAAAAGGGGTCTCTGGACCAAGACCGAAGGCTGTTTGT | GGATGGCCAGGAA    c.780
 D  I  S  E  K  G  S  L  D  Q  D  R  R  L  F  V  |  D  G  Q  E      p.260

          .         .         .         .         .     | 10   .    g.23671
 ATTGCTGTGGTTTACTTCCGGGATGGCTACATGCCTCGTCAGTACAGTCTACAG | AATTGG    c.840
 I  A  V  V  Y  F  R  D  G  Y  M  P  R  Q  Y  S  L  Q   | N  W      p.280

          .         .         .         .         .         .       g.23731
 GAAGCACGTCTACTGCTGGAGAGGTCACATGCTGCCAAGTGCCCAGACATTGCCACCCAG       c.900
 E  A  R  L  L  L  E  R  S  H  A  A  K  C  P  D  I  A  T  Q         p.300

          .         .         .         .         .         .       g.23791
 CTGGCTGGGACTAAGAAGGTGCAGCAGGAGCTAAGCAGGCCGGGCATGCTGGAGATGTTG       c.960
 L  A  G  T  K  K  V  Q  Q  E  L  S  R  P  G  M  L  E  M  L         p.320

          .         .         .         .         .         .       g.23851
 CTCCCTGGCCAGCCTGAGGCTGTGGCCCGCCTCCGCGCCACCTTTGCTGGCCTCTACTCA       c.1020
 L  P  G  Q  P  E  A  V  A  R  L  R  A  T  F  A  G  L  Y  S         p.340

           | 11        .         .         .         .         .    g.24432
 CTGGATGTG | GGTGAAGAAGGGGACCAGGCCATCGCCGAGGCCCTTGCTGCCCCTAGCCGG    c.1080
 L  D  V   | G  E  E  G  D  Q  A  I  A  E  A  L  A  A  P  S  R      p.360

          .         .         .  | 12      .         .         .    g.26237
 TTTGTGCTAAAGCCCCAGAGAGAGGGTGGAG | GTAACAACCTATATGGGGAGGAAATGGTA    c.1140
 F  V  L  K  P  Q  R  E  G  G  G |   N  N  L  Y  G  E  E  M  V      p.380

          .         .         .         .         .         .       g.26297
 CAGGCCCTGAAACAGCTGAAGGACAGTGAGGAGAGGGCCTCCTACATCCTCATGGAGAAG       c.1200
 Q  A  L  K  Q  L  K  D  S  E  E  R  A  S  Y  I  L  M  E  K         p.400

          .         .         .         .         .         .       g.26357
 ATCGAACCTGAGCCTTTTGAGAATTGCCTGCTACGGCCTGGCAGCCCTGCCCGAGTGGTC       c.1260
 I  E  P  E  P  F  E  N  C  L  L  R  P  G  S  P  A  R  V  V         p.420

          .         .         .         .  | 13      .         .    g.26866
 CAGTGCATTTCAGAGCTGGGCATCTTTGGGGTCTATGTCAG | GCAGGAAAAGACACTCGTG    c.1320
 Q  C  I  S  E  L  G  I  F  G  V  Y  V  R  |  Q  E  K  T  L  V      p.440

          .         .         .         .         .         .       g.26926
 ATGAACAAGCACGTGGGGCATCTACTTCGAACCAAAGCCATCGAGCATGCAGATGGTGGT       c.1380
 M  N  K  H  V  G  H  L  L  R  T  K  A  I  E  H  A  D  G  G         p.460

          .         .         .         .                           g.26971
 GTGGCAGCGGGAGTGGCAGTCCTGGACAACCCATACCCTGTGTGA                      c.1425
 V  A  A  G  V  A  V  L  D  N  P  Y  P  V  X                        p.474

          .         .         .         .         .         .       g.27031
 gggcacaaccaggccacgggaccttctatcctctgtatttgtcattcctctcctagccct       c.*60

          .         .         .         .         .         .       g.27091
 cctgaggggtatcctcctaaagacctccaaagtttttatggaagggtaaatactggtacc       c.*120

          .         .         .         .         .         .       g.27151
 ttcccccagctttccatctgaggaccagaaaagttgtgtctcccttagatgagatctaga       c.*180

          .         .         .         .         .         .       g.27211
 cgcccccaaatccttgagatgtgggtatagctcagggtaagctgctctgaggtaaaggtc       c.*240

          .         .         .         .         .         .       g.27271
 catgaaccctgccccactcctgtcagcccctcatcagccttttcagcaggttccagtgcc       c.*300

          .         .         .         .         .         .       g.27331
 tgacttgggataggactgagtggtaggaggagggggagtggaggggcatagcctttccct       c.*360

          .         .         .                                     g.27366
 aattctgccttaaataaaactgcattgctgattca                                c.*395

 (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 GSS glutathione 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 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.