tetratricopeptide repeat domain 29 (TTC29) - coding DNA reference sequence

(used for variant description)

(last modified December 7, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_031956.2 in the TTC29 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000004.11, covering TTC29 transcript NM_031956.2.

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

 (upstream sequence)
                     .         .         .         .                g.5047
              ctctgtttccgtggagacgctctcggcgtcccctgtctccgctccgg       c.-181

 .         .         .         .         .         .                g.5107
 cggagccaggcttcggaatcactgagagaggagggggcagcgccaacgcccagcacctgc       c.-121

 .         .         .         .         .         .                g.5167
 cgccggtgggggactgacttcggcggaacggaaaactggagttgtttccctgggccagtg       c.-61

 .       | 02 .         .         .         .         .    | 03     g.10987
 caccgag | gctgaagtctataagcctggagagaccatcagcagtaatctgcaaat | tccgaa c.-1

          .         .         .         .         .         .       g.11047
 ATGACCACCCTGCCCCCACTGCCCATGACACGCCCGAAGCTTACAGCCTTAGCCAGACAG       c.60
 M  T  T  L  P  P  L  P  M  T  R  P  K  L  T  A  L  A  R  Q         p.20

          .         .         .   | 04     .         .         .    g.13233
 AAGCTGCCTTGCTCCTCCAGAAAAATTCCAAG | GTCTCAATTGATCAAAGAAAAAGATGAC    c.120
 K  L  P  C  S  S  R  K  I  P  R  |  S  Q  L  I  K  E  K  D  D      p.40

          .         .         .         .         .       | 05 .    g.41637
 ATAGATCATTATCTAGAGGTAAATTTCAAAGGATTATCAAAAGAGGAAGTTGCTGC | TTAT    c.180
 I  D  H  Y  L  E  V  N  F  K  G  L  S  K  E  E  V  A  A  |  Y      p.60

          .         .         .         .         .         .       g.41697
 AGGAACTCCTACAAGAAGAATATCTGTGTGGACATGCTGCGAGATGGTTATCATAAGTCC       c.240
 R  N  S  Y  K  K  N  I  C  V  D  M  L  R  D  G  Y  H  K  S         p.80

          .         .         .         .         .         .       g.41757
 TTCACCGAGCTCTTCGCTCTGATGGAGCGGTGGGATGCCCTGAGGGAGGCTGCGAGAGTC       c.300
 F  T  E  L  F  A  L  M  E  R  W  D  A  L  R  E  A  A  R  V         p.100

          .         .         .         .         .         .       g.41817
 AGGTCCCTCTTCTGGCTGCAGAAGCCCCTGGAGGAGCAGCCTGATAAACTGGATTACCTG       c.360
 R  S  L  F  W  L  Q  K  P  L  E  E  Q  P  D  K  L  D  Y  L         p.120

          .         .         .         . | 06       .         .    g.47173
 TACCATTACCTGACCAGGGCTGAGGACGCTGAGAGGAAAG | AATCCTTCGAAGATGTACAT    c.420
 Y  H  Y  L  T  R  A  E  D  A  E  R  K  E |   S  F  E  D  V  H      p.140

          .         .         .         .         .         .       g.47233
 AATAACTTGTATGCTCTGGCCTGTTACTTCAATAATTCTGAAGACAAGTGGGTAAGGAAC       c.480
 N  N  L  Y  A  L  A  C  Y  F  N  N  S  E  D  K  W  V  R  N         p.160

          .         .         .         .         .         .       g.47293
 CACTTCTATGAACGATGTTTTAAGATTGCTCAGCTGATCAAAATTGACTGTGGGAAGAAA       c.540
 H  F  Y  E  R  C  F  K  I  A  Q  L  I  K  I  D  C  G  K  K         p.180

          .         .         .         .       | 07 .         .    g.75968
 GAAGCCGAGGCACACATGCATATGGGTCTTCTCTACGAGGAAGATG | GTCAGCTTCTGGAA    c.600
 E  A  E  A  H  M  H  M  G  L  L  Y  E  E  D  G |   Q  L  L  E      p.200

          .         .         .         .         .         .       g.76028
 GCTGCTGAGCATTATGAAGCATTCCATCAATTGACACAGGGGCGGATATGGAAGGATGAG       c.660
 A  A  E  H  Y  E  A  F  H  Q  L  T  Q  G  R  I  W  K  D  E         p.220

          .         .         .         .         .         .       g.76088
 ACAGGCCGCTCTCTCAACTTGTTGGCCTGTGAGAGTCTCCTGAGGACTTACAGATTACTC       c.720
 T  G  R  S  L  N  L  L  A  C  E  S  L  L  R  T  Y  R  L  L         p.240

          .         .         .         .         .         .       g.76148
 TCAGACAAAATGCTAGAAAATAAAGAATACAAACAGGCCATCAAAATTCTAATAAAAGCT       c.780
 S  D  K  M  L  E  N  K  E  Y  K  Q  A  I  K  I  L  I  K  A         p.260

          .          | 08        .         .         .         .    g.83340
 TCTGAAATAGCCAAAGAAG | GAAGTGACAAAAAGATGGAAGCGGAAGCCTCTTACTACTTG    c.840
 S  E  I  A  K  E  G |   S  D  K  K  M  E  A  E  A  S  Y  Y  L      p.280

          .         .         .         .      | 09  .         .    g.117000
 GGCTTAGCACACTTAGCTGCTGAGGAATATGAAACAGCATTAACA | GTCCTTGACACTTAC    c.900
 G  L  A  H  L  A  A  E  E  Y  E  T  A  L  T   | V  L  D  T  Y      p.300

          .         .         .         .         .         .       g.117060
 TGTAAAATCTCCACAGACCTGGATGATGATCTCAGTCTGGGGAGAGGCTATGAAGCCATA       c.960
 C  K  I  S  T  D  L  D  D  D  L  S  L  G  R  G  Y  E  A  I         p.320

          .        | 10.         .         .         .         .    g.130677
 GCCAAGGTCCTGCAGAG | CCAAGGAGAGATGACAGAAGCAATTAAATACTTGAAAAAATTT    c.1020
 A  K  V  L  Q  S  |  Q  G  E  M  T  E  A  I  K  Y  L  K  K  F      p.340

          .         .         .         .         .         .       g.130737
 GTGAAAATTGCAAGAAACAATTTTCAAAGCCTAGATTTGGTGAGAGCAAGTACAATGCTT       c.1080
 V  K  I  A  R  N  N  F  Q  S  L  D  L  V  R  A  S  T  M  L         p.360

          .         .  | 11      .         .         .         .    g.147236
 GGGGACATCTACAATGAAAAA | GGATACTACAACAAAGCTTCTGAATGCTTTCAGCAAGCT    c.1140
 G  D  I  Y  N  E  K   | G  Y  Y  N  K  A  S  E  C  F  Q  Q  A      p.380

          .         .         .         .         .         .       g.147296
 TTTGACACAACAGTAGAGCTAATGAGCATGCCTCTGATGGATGAGACAAAAGTTCACTAT       c.1200
 F  D  T  T  V  E  L  M  S  M  P  L  M  D  E  T  K  V  H  Y         p.400

          .         .         .         .         .         .       g.147356
 GGAATAGCAAAAGCTCATCAGATGATGCTTACAGTGAACAACTATATAGAGTCTGCAGAT       c.1260
 G  I  A  K  A  H  Q  M  M  L  T  V  N  N  Y  I  E  S  A  D         p.420

          .         .         .         .         .         .       g.147416
 CTCACCAGCCTCAACTACCTGCTGTCATGGAAGGAGAGCAGAGGTAACATTGAACCTGAT       c.1320
 L  T  S  L  N  Y  L  L  S  W  K  E  S  R  G  N  I  E  P  D         p.440

          . | 12       .         .         .         .         .    g.243381
 CCAGTTACTG | AAGAGTTTAGAGGATCCACAGTGGAAGCTGTATCTCAAAACTCAGAACGT    c.1380
 P  V  T  E |   E  F  R  G  S  T  V  E  A  V  S  Q  N  S  E  R      p.460

          .        | 13.         .         .                        g.243737
 TTGGAAGAACTCAGTAG | GTTTCCAGGTGATCAAAAAAATGAAACTTAA                c.1428
 L  E  E  L  S  R  |  F  P  G  D  Q  K  N  E  T  X                  p.475

          .         .         .         .         .         .       g.243797
 agcagcttttcacttaacatcaaagcaagaagaaatccatcatgtcaccttagacttcaa       c.*60

          .         .         .         .         .         .       g.243857
 tacttgtaataggagcatgttacagataatatagagttataataaaacggactatgactc       c.*120

          .                                                         g.243868
 ttttcattgga                                                        c.*131

 (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 Tetratricopeptide repeat domain 29 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.