tafazzin (TAZ) - coding DNA reference sequence

(used for mutation description)

(last modified April 30, 2014)

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

The sequence was taken from NC_000023.10, covering TAZ transcript NM_000116.3.

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

 (upstream sequence)
                                                                    g.1004
                                                         tttc       c.-301

 .         .         .         .         .         .                g.1064
 cggcggttgcaccgggccggggtgccagcgcccgccttcccgtttcctcccgttccgcag       c.-241

 .         .         .         .         .         .                g.1124
 cgcgcccacggcctgtgaccccggcgaccgctccccagtgacgagagagcggggccgggc       c.-181

 .         .         .         .         .         .                g.1184
 gctgctccggcctgacctgcgaagggacctcggtccagtcccctgttgcgccgcgccccc       c.-121

 .         .         .         .         .         .                g.1244
 tgtccgtccgtgcgcgggccagtcaggggccagtgtctcgagcggtcgaggtcgcagacc       c.-61

 .         .         .         .         .         .                g.1304
 tagaggcgccccacaggccggcccggggcgctgggagcgccggccgcgggccgggtgggg       c.-1

          .         .         .         .         .         .       g.1364
 ATGCCTCTGCACGTGAAGTGGCCGTTCCCCGCGGTGCCGCCGCTCACCTGGACCCTGGCC       c.60
 M  P  L  H  V  K  W  P  F  P  A  V  P  P  L  T  W  T  L  A         p.20

          .         .         .         .          | 02        .    g.1557
 AGCAGCGTCGTCATGGGCTTGGTGGGCACCTACAGCTGCTTCTGGACCA | AGTACATGAAC    c.120
 S  S  V  V  M  G  L  V  G  T  Y  S  C  F  W  T  K |   Y  M  N      p.40

          .         .         .         .         .         .       g.1617
 CACCTGACCGTGCACAACAGGGAGGTGCTGTACGAGCTCATCGAGAAGCGAGGCCCGGCC       c.180
 H  L  T  V  H  N  R  E  V  L  Y  E  L  I  E  K  R  G  P  A         p.60

          .         .         .         .         .         | 03    g.2669
 ACGCCCCTCATCACCGTGTCCAATCACCAGTCCTGCATGGACGACCCTCATCTCTGGG | GG    c.240
 T  P  L  I  T  V  S  N  H  Q  S  C  M  D  D  P  H  L  W  G |       p.80

          .         .         .         .     | 04   .         .    g.2958
 ATCCTGAAACTCCGCCACATCTGGAACCTGAAGTTGATGCGTTG | GACCCCTGCAGCTGCA    c.300
 I  L  K  L  R  H  I  W  N  L  K  L  M  R  W  |  T  P  A  A  A      p.100

          .         .         .         .         .         .       g.3018
 GACATCTGCTTCACCAAGGAGCTACACTCCCACTTCTTCAGCTTGGGCAAGTGTGTGCCT       c.360
 D  I  C  F  T  K  E  L  H  S  H  F  F  S  L  G  K  C  V  P         p.120

          . | 05       .         .         .         .         .    g.3611
 GTGTGCCGAG | GAGCAGAATTTTTCCAAGCAGAGAATGAGGGGAAAGGTGTTCTAGACACA    c.420
 V  C  R  G |   A  E  F  F  Q  A  E  N  E  G  K  G  V  L  D  T      p.140

          .         .         .         . | 06       .         .    g.9025
 GGCAGGCACATGCCAGGTGCTGGAAAAAGAAGAGAGAAAG | GAGATGGCGTCTACCAGAAG    c.480
 G  R  H  M  P  G  A  G  K  R  R  E  K  G |   D  G  V  Y  Q  K      p.160

          .         .         .         .         .         .       g.9085
 GGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAA       c.540
 G  M  D  F  I  L  E  K  L  N  H  G  D  W  V  H  I  F  P  E         p.180

   | 07      .         .         .         .    | 08    .         . g.9511
 G | GGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGG | GAATCGGGCGCCTGATT c.600
 G |   K  V  N  M  S  S  E  F  L  R  F  K  W  G |   I  G  R  L  I   p.200

          .         .         .         .       | 09 .         .    g.9688
 GCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCG | GAATGAATGACGTC    c.660
 A  E  C  H  L  N  P  I  I  L  P  L  W  H  V  G |   M  N  D  V      p.220

          .         .         .          | 10        .         .    g.10141
 CTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAG | AAAATCACTGTGCTGATCGGG    c.720
 L  P  N  S  P  P  Y  F  P  R  F  G  Q   | K  I  T  V  L  I  G      p.240

          .         .         .         .         .        | 11.    g.10368
 AAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCT | GTG    c.780
 K  P  F  S  A  L  P  V  L  E  R  L  R  A  E  N  K  S  A   | V      p.260

          .         .         .         .         .         .       g.10428
 GAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAG       c.840
 E  M  R  K  A  L  T  D  F  I  Q  E  E  F  Q  H  L  K  T  Q         p.280

          .         .         .                                     g.10467
 GCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAG                            c.879
 A  E  Q  L  H  N  H  L  Q  P  G  R  X                              p.292

          .         .         .         .         .         .       g.10527
 gccttgcttgctgccttctggattcttggcccgcacagagctggggctgagggatggact       c.*60

          .         .         .         .         .         .       g.10587
 gatgcttttagctcaaacgtggcttttagacagatttgttcatagaccctctcaagtgcc       c.*120

          .         .         .         .         .         .       g.10647
 ctctccgagctggtaggcattccagctcctccgtgcttcctcagttacacaaaggacctc       c.*180

          .         .         .         .         .         .       g.10707
 agctgcttctcccacttggccaagcagggaggaagaagcttaggcagggctctctttcct       c.*240

          .         .         .         .         .         .       g.10767
 tcttgccttcagatgttctctcccaggggctggcttcaggagggagcatagaaggcaggt       c.*300

          .         .         .         .         .         .       g.10827
 gagcaaccagttggctaggggagcagggggcccaccagagctgtggagaggggaccctaa       c.*360

          .         .         .         .         .         .       g.10887
 gactcctcggcctggctcctacccaccgcccttgccgaaccaggagctgctcactacctc       c.*420

          .         .         .         .         .         .       g.10947
 ctcagggatggccgttggccacgtcttccttctgcctgagcttccccccgaccacaggcc       c.*480

          .         .         .         .         .         .       g.11007
 ctttcctcaggcaaggtctggcctcaggtgggccgcaggcgggaaaagcagcccttggcc       c.*540

          .         .         .         .         .         .       g.11067
 agaagtcaagcccagccacgtggagcctagagtgagggcctgaggtctggctgcttgccc       c.*600

          .         .         .         .         .         .       g.11127
 ccatgctggcgccaacaacttctccatcctttctgcctctcaacatcacttgaatcctag       c.*660

          .         .         .         .         .         .       g.11187
 ggcctgggttttcatgtttttgaaacagaaccataaagcatatgtgttggcttgttgtaa       c.*720

                                                                    g.11189
 aa                                                                 c.*722

 (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 Tafazzin 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.