coiled-coil domain containing 134 (CCDC134) - coding DNA reference sequence

(used for variant description)

(last modified June 9, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_024821.2 in the CCDC134 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_068430.1, covering CCDC134 transcript NM_024821.2.

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

 (upstream sequence)
                     .         .         .         .                g.5049
            ctttcagttgctttgctgttagcctgttggaccttcgagcctagctgct       c.-61

 .         .         .         .         .    | 02    .             g.13217
 cgcacaggactcggccacctgcccttcctgcaccgactggccag | ctcaagaggtttggat    c.-1

          .         .         .         .         .         .       g.13277
 ATGGACCTTCTTCAATTCCTGGCCTTCCTCTTTGTCCTGCTTTTGTCTGGGATGGGAGCC       c.60
 M  D  L  L  Q  F  L  A  F  L  F  V  L  L  L  S  G  M  G  A         p.20

          .         .         .         .    | 03    .         .    g.14222
 ACAGGCACCTTGAGGACCTCCCTGGACCCAAGCCTGGAGATCT | ACAAGAAGATGTTTGAG    c.120
 T  G  T  L  R  T  S  L  D  P  S  L  E  I  Y |   K  K  M  F  E      p.40

          .         .         .         .         .         .       g.14282
 GTGAAGCGGCGGGAGCAGCTGTTGGCACTGAAGAACCTGGCACAGCTGAACGACATCCAC       c.180
 V  K  R  R  E  Q  L  L  A  L  K  N  L  A  Q  L  N  D  I  H         p.60

          .         .         .         .      | 04  .         .    g.14548
 CAGCAGTACAAGATCCTTGATGTCATGCTCAAGGGGCTCTTTAAG | GTGCTGGAGGACTCC    c.240
 Q  Q  Y  K  I  L  D  V  M  L  K  G  L  F  K   | V  L  E  D  S      p.80

          .         .         .         .         .         .       g.14608
 CGGACAGTGCTCACCGCTGCTGATGTGCTCCCAGATGGGCCCTTCCCCCAGGACGAGAAG       c.300
 R  T  V  L  T  A  A  D  V  L  P  D  G  P  F  P  Q  D  E  K         p.100

          . | 05       .         .         .         .         .    g.17640
 CTGAAGGATG | CTTTCTCCCACGTGGTGGAGAACACGGCCTTCTTCGGCGATGTGGTGCTG    c.360
 L  K  D  A |   F  S  H  V  V  E  N  T  A  F  F  G  D  V  V  L      p.120

          .         .         .         .         .         .       g.17700
 CGCTTCCCGAGGATTGTGCACTATTACTTTGACCACAACTCCAACTGGAACCTCCTCATC       c.420
 R  F  P  R  I  V  H  Y  Y  F  D  H  N  S  N  W  N  L  L  I         p.140

          .         .         .         .         .         .       g.17760
 CGCTGGGGTATCAGTTTCTGCAACCAGACAGGCGTCTTCAACCAGGGGCCCCACTCGCCC       c.480
 R  W  G  I  S  F  C  N  Q  T  G  V  F  N  Q  G  P  H  S  P         p.160

          .   | 06     .         .         .         .         .    g.18125
 ATCCTCAGCCTG | ATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAAC    c.540
 I  L  S  L   | M  A  Q  E  L  G  I  S  E  K  D  S  N  F  Q  N      p.180

          .         .     | 07   .         .         .         .    g.30060
 CCATTTAAAATCGACCGCACAGAG | TTCATTCCCAGCACTGACCCTTTCCAGAAGGCCCTG    c.600
 P  F  K  I  D  R  T  E   | F  I  P  S  T  D  P  F  Q  K  A  L      p.200

          .         .         .         .         .         .       g.30120
 AGAGAAGAAGAGAAACGCCGAAAGAAAGAGGAGAAGCGGAAGGAGATCCGAAAAGGCCCA       c.660
 R  E  E  E  K  R  R  K  K  E  E  K  R  K  E  I  R  K  G  P         p.220

          .         .         .                                     g.30150
 AGGATCTCCAGATCCCAGTCTGAGTTATAG                                     c.690
 R  I  S  R  S  Q  S  E  L  X                                       p.229

          .         .         .         .         .         .       g.30210
 ccctggagcagctcagggctcagggggccacaaggaggcaggtcgggaggaagaagaggt       c.*60

          .         .         .         .         .         .       g.30270
 ggaggtgtggttgtggtggagagcaccagctagccccttccagaaggggaggccacattt       c.*120

          .         .         .         .         .         .       g.30330
 gcccggccccctggagctgggtctgagccccagctgaagggactgagcctcagatggctg       c.*180

          .         .         .         .         .         .       g.30390
 gattttctctcaggggcctcctgctgaaggggccttcagaggattttatgctggaaatat       c.*240

          .         .         .         .         .         .       g.30450
 gaccctgtgcagactgctgggggaggcaggaggatgcctgcctggaccctgttggtggct       c.*300

          .         .         .         .         .         .       g.30510
 gaagacctctggccagctggcttccgcccttggtggggaagcagcagaactaggttctga       c.*360

          .         .         .         .         .         .       g.30570
 gccacgggtcagggtgccaccctgctgctggccccactgtgtcacagagctgcctggcac       c.*420

          .         .         .         .         .                 g.30629
 aggtcccagcccctctgcagagacacaataaaagccagcagaccctttggaccgaccaa        c.*479

 (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 Coiled-coil domain containing 134 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.