caspase recruitment domain family, member 11 (CARD11) - coding DNA reference sequence

(used for mutation description)

(last modified May 2, 2014)

This file was created to facilitate the description of sequence variants in the CARD11 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000007.13, covering CARD11 transcript NM_032415.4.

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

 (upstream sequence)
          .         .         .         .         .                 g.54
 CTGAACCTCTTGATGTTCTTCTCACACACCCGGATGAAGAGCACGATGGGGTAG             c.54
 L  N  L  L  M  F  F  S  H  T  R  M  K  S  T  M  G  X               p.17

          .         .         .         .         .         .       g.114
 atgttggacttgatcaagtctcttgtgcagccgatcccagcctccagcaggcagtgcttg       c.*60

    | 02     .         .         .         .         .         .    g.2180
 tt | cttggcggccacagcttcaatgttggcaggggcgatgcattcgaacgcgttggggttc    c.*120

          .         .         .         .         .         .       g.2240
 ttctctcgggagtagatgatggtctccgtcttctgccttctgaggaactcatctcttgtg       c.*180

         | 03.         .         .         .         .         .    g.3290
 acgatat | ctgacttgcagatggtgaactccatggcacctcccgagttgagcagcctctgc    c.*240

          .         .         .         .         .         .       g.3350
 accagcgtcttggccagcacggtgggtgtgaagagcacgggccggcggcgctcgcagtag       c.*300

          .         .         .         .         .         .       g.3410
 aaggcgcgtaccaggctgtaggggatgaggctgaggttcttgcccagctcgctctcaggg       c.*360

         | 04.         .         .         .         .         .    g.5240
 tccagct | cttcctgcttctcagtcaagagcttggtggcgtccagcgaggaccgggccagg    c.*420

          .         .         .         .         .         .       g.5300
 ctccctagcggactccccgagatgatgcggacccgctcgttgctgttcatccgcttatac       c.*480

          .         .    | 05    .         .         .         .    g.7277
 ttgttctcggacctgctgacgaa | ctgaaggagctggccaaaaaggaagcttgctcgcgag    c.*540

          .         .         .         .         .          | 06    g.8442
 agacgggggctgacccgggggtcgcttgttgaaagcgcttcttctggctgcagggtgtt | c    c.*600

          .         .         .         .         .         .       g.8502
 cggagtgcccgcagggtgtggtgggtgccgtctacctcctcccggctgcctcggtgcatc       c.*660

          .         .         .       | 07 .         .         .    g.9346
 aggcgctgcagtttcaccaggaggagctgctgggct | cggctgtagctgggtatggtgccc    c.*720

          .         .         .         .         .         .       g.9406
 atatccaggtcatggtctgtgaaagggtcgacccgcgcgcacagccactcgtgcctgtcc       c.*780

          .         .         .         .         .         .       g.9466
 tggtacatggtgtcacggacgtgcacaacatcgtcacacttcagggacatggtgcaggcg       c.*840

          .         .         .         .         .         .       g.9526
 tccagctggctggagatgttcaggttcagccggatgtagaacgagtcccccgatgtgatc       c.*900

          .         .         .        | 08.         .         .    g.12607
 aggccgtcctccatgtccttcaccagcttccggtacc | cttcgtggttgaccttgtagtgc    c.*960

          .         .         .         .         .         .       g.12667
 agcgtgacggggccgctgcacctctggatggtccagtgggcttcctctttggtgcatgtg       c.*1020

          .         .         .         .     | 09   .         .    g.13098
 tccaacgggacactctgcctctcgcctcggatgcagccttctag | cagcagcagctggtgg    c.*1080

          .         .         .         .         .         .       g.13158
 ccctcacggaggccggctttctcggccagagagccaggcttgaccgagtgcacgaagctc       c.*1140

          .         .         .         .         .         .       g.13218
 cctcgcgcgttgccccccagcagggtgagctgggaggtgaggctgtcgccattcagcgtc       c.*1200

          .         .         .         .         .         .       g.13278
 gtgtgctgcaccgagggccctgggccccgcacgtgccccacagaggtgaccgaaggccgg       c.*1260

        | 10 .         .         .         .         .         .    g.14237
 aagggt | ctttccagagagaacttcctgaacatgaggttgacctgctccaggtcgtaggca    c.*1320

          .         .         .         .         .         .       g.14297
 tccaggccctcggattggtgggaggaggaggaggagtggatggaggagggtccgaaggag       c.*1380

          .          | 11        .         .         .         .    g.16730
 tagcgttcgtgactgtcat | catccagatctaaggcgtcaaacccgccgctgtcattgtct    c.*1440

          .   | 12     .         .         .         .         .    g.18596
 tcttcgactgtg | ctgcgatggggcgcgtcctccttgtagcgtctgacgatggagtcgttt    c.*1500

          .         .         .         .         .    | 13    .    g.19949
 cccgggggctcggcggtgattgacatgatgctgctgcggctccgggggggctg | catcttg    c.*1560

          .         .         .         .         .         .       g.20009
 gtgaaggagttggtgatgggcagagatccgcaggagctagggctggcgtccgtgccttct       c.*1620

          .       | 14 .         .         .         .         .    g.22529
 tcctcgtgccccttgg | cttgaaaatctgatgttcgcttcaggctgatgggggatttggct    c.*1680

          | 15         .         .         .         .         .    g.24455
 ctctgcag | ctggatgcccttcaggttcatcctgcgctggggcggatggtagggcaggaag    c.*1740

          .         .         .         .         .         .       g.24515
 tacttgctgtcttcaggtgactcctccgaggtggaagaatcgtcagcttcttgaccattg       c.*1800

          .         .         .         .         .         .       g.24575
 gtcctggggctggcatccccaaagtcctgagagatgatggttactggcaggttcctgggc       c.*1860

       | 16  .         .         .         .         .         .    g.27042
 agact | ctggtccaggttgttgctgtccttggagaggcgccgcagcttgctctccaggttg    c.*1920

          .         .         .         .         .         .       g.27102
 acgatgcaggcctcccgccgcaccatctcgatcctcatctcgtcgttcttctcctccagc       c.*1980

          .         .         .         .         .         .       g.27162
 tcgcggatctgcttcctgtacttgtccttttcgattaagcactgcgagtactgtgtctga       c.*2040

          .         .    | 17    .         .         .         .    g.27894
 gcttcatctcgggagtggaaggc | ctggtcccgctcccgctccacctcctccagctgcagc    c.*2100

          .         .         .         .         .         .       g.27954
 atgaccgtgttcatgcggtgcttgtacatttcacagtcctttcccagggtcgagcacttg       c.*2160

          .         .          | 18        .         .         .    g.28660
 agctccaggtcctccttctcctccaggta | cttgtctcgcagctcctctgcctggcgggcc    c.*2220

          .         .         .         .         .         .       g.28720
 tcctcctgcaggttgtagatcctgttgaccagctcctgcctgtcctccagggcctccttg       c.*2280

          .         .         .         .         .         .       g.28780
 cggtcgtgttccaagatgtccaggatggccttgtctgagtctggcaggctgcgcttcccg       c.*2340

    | 19     .         .         .         .         .         .    g.29757
 gc | ctggatgatggactgcagctcctggtttttggtcttcagcatttcattctcccgctcc    c.*2400

          .         .         .         .         .         .       g.29817
 agttccagaacctgctccttcttgggccgattttcaatgtcattcttcagttttagagac       c.*2460

          .         .         .         .         .         .       g.29877
 tgatttctctccagcttacattcctcctccatcttattcaaccggtgctttagctgatcg       c.*2520

    | 20     .         .         .         .         .         .    g.34220
 at | ctcgagttggaggtctcggctcctcatgaccgccatgttcttctcctcactgagctgt    c.*2580

          .         .         .         .         .         .       g.34280
 gcgtagcgcatggctaagttgtagttgtcgtccttcaccttgaccagctcgtcattgtag       c.*2640

          .         .         .         .         .         .       g.34340
 ctgtcccgctcttccttcatcttgtagtaccgctcctggaaggttagcagctccacgcgc       c.*2700

          .         .         .         .         .         .       g.34400
 gtcagcgtcatctgcttcttctcatcctccagctgccgcaacctggccagcagctcgcag       c.*2760

          .         .         .         .         .         .       g.34460
 cgttgcaggtccttggccttcatctgctgctgcagcttgatgacctcgttcatcaggaag       c.*2820

          .         .         | 21         .         .         .    g.35801
 tgcgtgaggccctcgtggccttcctcca | ccacaatggtggagaatctccgagtgggctct    c.*2880

          .         .         .         .         .         .       g.35861
 ttcccagtcaccagtttgtacagttctgggtaataaaattctaggctctccaagaagacc       c.*2940

          .         .         .         .       | 22 .         .    g.37539
 acatagcccctttgccccttggtatgtagaatgtccaacagccggc | ctgctcggttgatc    c.*3000

          .         .         .         .         .         .       g.37599
 ttggatggcagcataggggcattaagcacttcatcttcatcctgctcatcaatgacctta       c.*3060

          .         .         .         .         .         .       g.37659
 cactgacgcaggtagggcgtgagcttggcagggttgatatagcggctgagcatgtgccgg       c.*3120

          .         .         .         .         .         .       g.37719
 ttacactccacattctcccacaaggcgtcctcttcatccttcagcgtctccatgtagtca       c.*3180

          .          | 23        .         .         .         .    g.48491
 tccatctctggccctcctc | ctggcatggaggggtgctcacacacaggggctgctatcccg    c.*3240

          .         .         .         .         .         .       g.48551
 ccattggggtgtgacttctacactttccggctggatcttgtcgtcccttgagccaggctc       c.*3300

          .         .         .  | 24      .         .         .    g.133646
 ccgttgcatctggacttgcagtgcttgggat | ctggggcgctcatgctccgccagccagct    c.*3360

          .         .         .         .         .         .       g.133706
 gcgcggggcgcctcctccacgcaggcctccggcttcctccaggcgaccaggccctccgtc       c.*3420

          .         .         .         .         .         .       g.133766
 cccccgggcccggagccgtcctccgaggggcgccgcccgcccaggggctgcagggccggg       c.*3480

          .         .         .         .         .         .       g.133826
 agggggctgcgggcggcgcgggcaggagtccgaaggccagaggaggcaggagagaaaaaa       c.*3540

  | 25       .         .         .         .         .         .                                                               g.133886
  | c                                                               c.*3541

 (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 Caspase recruitment domain family, member 11 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.