cathepsin C (CTSC) - coding DNA reference sequence

(used for variant description)

(last modified May 3, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_001814.4 in the CTSC gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000011.9, covering CTSC transcript NM_001814.4.

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

 (upstream sequence)
                     .         .         .         .                g.5041
                    cgtagctatttcaaggcgcgcgcctcgtggtggactcaccg       c.-61

 .         .         .         .         .         .                g.5101
 ctagcccgcagcgctcggcttcctggtaattcttcacctcttttctcagctccctgcagc       c.-1

          .         .         .         .         .         .       g.5161
 ATGGGTGCTGGGCCCTCCTTGCTGCTCGCCGCCCTCCTGCTGCTTCTCTCCGGCGACGGC       c.60
 M  G  A  G  P  S  L  L  L  A  A  L  L  L  L  L  S  G  D  G         p.20

          .         .         .         .         .         .       g.5221
 GCCGTGCGCTGCGACACACCTGCCAACTGCACCTATCTTGACCTGCTGGGCACCTGGGTC       c.120
 A  V  R  C  D  T  P  A  N  C  T  Y  L  D  L  L  G  T  W  V         p.40

          .         .         .         .         .   | 02     .    g.7699
 TTCCAGGTGGGCTCCAGCGGTTCCCAGCGCGATGTCAACTGCTCGGTTATGG | GACCACAA    c.180
 F  Q  V  G  S  S  G  S  Q  R  D  V  N  C  S  V  M  G |   P  Q      p.60

          .         .         .         .         .         .       g.7759
 GAAAAAAAAGTAGTGGTGTACCTTCAGAAGCTGGATACAGCATATGATGACCTTGGCAAT       c.240
 E  K  K  V  V  V  Y  L  Q  K  L  D  T  A  Y  D  D  L  G  N         p.80

          .         .         .         .         .         .       g.7819
 TCTGGCCATTTCACCATCATTTACAACCAAGGCTTTGAGATTGTGTTGAATGACTACAAG       c.300
 S  G  H  F  T  I  I  Y  N  Q  G  F  E  I  V  L  N  D  Y  K         p.100

          .         | 03         .         .         .         .    g.30261
 TGGTTTGCCTTTTTTAAG | TATAAAGAAGAGGGCAGCAAGGTGACCACTTACTGCAACGAG    c.360
 W  F  A  F  F  K   | Y  K  E  E  G  S  K  V  T  T  Y  C  N  E      p.120

          .         .         .         .         .         .       g.30321
 ACAATGACTGGGTGGGTGCATGATGTGTTGGGCCGGAACTGGGCTTGTTTCACCGGAAAG       c.420
 T  M  T  G  W  V  H  D  V  L  G  R  N  W  A  C  F  T  G  K         p.140

          .         .         .         .         .         .       g.30381
 AAGGTGGGAACTGCCTCTGAGAATGTGTATGTCAACATAGCACACCTTAAGAATTCTCAG       c.480
 K  V  G  T  A  S  E  N  V  Y  V  N  I  A  H  L  K  N  S  Q         p.160

       | 04  .         .         .         .         .         .    g.33510
 GAAAA | GTATTCTAATAGGCTCTACAAGTATGATCACAACTTTGTGAAAGCTATCAATGCC    c.540
 E  K  |  Y  S  N  R  L  Y  K  Y  D  H  N  F  V  K  A  I  N  A      p.180

          .         .         .         .         .         .       g.33570
 ATTCAGAAGTCTTGGACTGCAACTACATACATGGAATATGAGACTCTTACCCTGGGAGAT       c.600
 I  Q  K  S  W  T  A  T  T  Y  M  E  Y  E  T  L  T  L  G  D         p.200

          .         .         .         .  | 05      .         .    g.42147
 ATGATTAGGAGAAGTGGTGGCCACAGTCGAAAAATCCCAAG | GCCCAAACCTGCACCACTG    c.660
 M  I  R  R  S  G  G  H  S  R  K  I  P  R  |  P  K  P  A  P  L      p.220

          .         .         .         .         .         .       g.42207
 ACTGCTGAAATACAGCAAAAGATTTTGCATTTGCCAACATCTTGGGACTGGAGAAATGTT       c.720
 T  A  E  I  Q  Q  K  I  L  H  L  P  T  S  W  D  W  R  N  V         p.240

          .         .         .        | 06.         .         .    g.46532
 CATGGTATCAATTTTGTCAGTCCTGTTCGAAACCAAG | CATCCTGTGGCAGCTGCTACTCA    c.780
 H  G  I  N  F  V  S  P  V  R  N  Q  A |   S  C  G  S  C  Y  S      p.260

          .         .         .         .         .         .       g.46592
 TTTGCTTCTATGGGTATGCTAGAAGCGAGAATCCGTATACTAACCAACAATTCTCAGACC       c.840
 F  A  S  M  G  M  L  E  A  R  I  R  I  L  T  N  N  S  Q  T         p.280

          .         .         .         .          | 07        .    g.48276
 CCAATCCTAAGCCCTCAGGAGGTTGTGTCTTGTAGCCAGTATGCTCAAG | GCTGTGAAGGC    c.900
 P  I  L  S  P  Q  E  V  V  S  C  S  Q  Y  A  Q  G |   C  E  G      p.300

          .         .         .         .         .         .       g.48336
 GGCTTCCCATACCTTATTGCAGGAAAGTACGCCCAAGATTTTGGGCTGGTGGAAGAAGCT       c.960
 G  F  P  Y  L  I  A  G  K  Y  A  Q  D  F  G  L  V  E  E  A         p.320

          .         .         .         .         .         .       g.48396
 TGCTTCCCCTACACAGGCACTGATTCTCCATGCAAAATGAAGGAAGACTGCTTTCGTTAT       c.1020
 C  F  P  Y  T  G  T  D  S  P  C  K  M  K  E  D  C  F  R  Y         p.340

          .         .         .         .         .         .       g.48456
 TACTCCTCTGAGTACCACTATGTAGGAGGTTTCTATGGAGGCTGCAATGAAGCCCTGATG       c.1080
 Y  S  S  E  Y  H  Y  V  G  G  F  Y  G  G  C  N  E  A  L  M         p.360

          .         .         .         .         .         .       g.48516
 AAGCTTGAGTTGGTCCATCATGGGCCCATGGCAGTTGCTTTTGAAGTATATGATGACTTC       c.1140
 K  L  E  L  V  H  H  G  P  M  A  V  A  F  E  V  Y  D  D  F         p.380

          .         .         .         .         .         .       g.48576
 CTCCACTACAAAAAGGGGATCTACCACCACACTGGTCTAAGAGACCCTTTCAACCCCTTT       c.1200
 L  H  Y  K  K  G  I  Y  H  H  T  G  L  R  D  P  F  N  P  F         p.400

          .         .         .         .         .         .       g.48636
 GAGCTGACTAATCATGCTGTTCTGCTTGTGGGCTATGGCACTGACTCAGCCTCTGGGATG       c.1260
 E  L  T  N  H  A  V  L  L  V  G  Y  G  T  D  S  A  S  G  M         p.420

          .         .         .         .         .         .       g.48696
 GATTACTGGATTGTTAAAAACAGCTGGGGCACCGGCTGGGGTGAGAATGGCTACTTCCGG       c.1320
 D  Y  W  I  V  K  N  S  W  G  T  G  W  G  E  N  G  Y  F  R         p.440

          .         .         .         .         .         .       g.48756
 ATCCGCAGAGGAACTGATGAGTGTGCAATTGAGAGCATAGCAGTGGCAGCCACACCAATT       c.1380
 I  R  R  G  T  D  E  C  A  I  E  S  I  A  V  A  A  T  P  I         p.460

          .                                                         g.48768
 CCTAAATTGTAG                                                       c.1392
 P  K  L  X                                                         p.463

          .         .         .         .         .         .       g.48828
 ggtatgccttccagtatttcataatgatctgcatcagttgtaaaggggaattggtatatt       c.*60

          .         .         .         .         .         .       g.48888
 cacagactgtagactttcagcagcaatctcagaagcttacaaatagatttccatgaagat       c.*120

          .         .         .         .         .         .       g.48948
 atttgtcttcagaattaaaactgcccttaattttaatatacctttcaatcggccactggc       c.*180

          .         .         .         .         .         .       g.49008
 catttttttctaagtattcaattaagtgggaattttctggaagatggtcagctatgaagt       c.*240

          .         .         .         .         .         .       g.49068
 aatagagtttgcttaatcatttgtaattcaaacatgctatattttttaaaatcaatgtga       c.*300

          .         .         .         .         .         .       g.49128
 aaacatagacttatttttaaattgtaccaatcacaagaaaataatggcaataattatcaa       c.*360

          .         .         .         .         .                 g.49182
 aacttttaaaatagatgctcatatttttaaaataaagttttaaaaataactgca             c.*414

 (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 Cathepsin C 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.