Kelch repeat and BTB (POZ) domain containing 13 (KBTBD13) - coding DNA reference sequence

(used for mutation description)

(last modified December 11, 2010)


This file was created to facilitate the description of sequence variants in the KBTBD13 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_021411.1, covering KBTBD13 transcript NM_001101362.2.

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
          .         .         .         .         .         .       g.60
 ATGGCACGGGGTCCACAGACCCTGGTGCAGGTGTGGGTGGGCGGCCAGCTCTTCCAAGCC       c.60
 M  A  R  G  P  Q  T  L  V  Q  V  W  V  G  G  Q  L  F  Q  A         p.20

          .         .         .         .         .         .       g.120
 GACCGCGCCCTGCTGGTGGAGCACTGTGGCTTCTTCCGAGGCCTCTTCCGCTCCGGCATG       c.120
 D  R  A  L  L  V  E  H  C  G  F  F  R  G  L  F  R  S  G  M         p.40

          .         .         .         .         .         .       g.180
 CGGGAGACCCGCGCAGCAGAGGTGCGCCTGGGCGTTCTGAGCGCGGGAGGTTTCCGCGCC       c.180
 R  E  T  R  A  A  E  V  R  L  G  V  L  S  A  G  G  F  R  A         p.60

          .         .         .         .         .         .       g.240
 ACGCTGCAGGTGCTGCGCGGCGACCGGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAG       c.240
 T  L  Q  V  L  R  G  D  R  P  A  L  A  A  E  D  E  L  L  Q         p.80

          .         .         .         .         .         .       g.300
 GCCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCTCGCTTTCTGGAGCACAAC       c.300
 A  V  E  C  A  A  F  L  Q  A  P  A  L  A  R  F  L  E  H  N         p.100

          .         .         .         .         .         .       g.360
 CTCACGTCGGACAACTGCGCATTGCTGTGCGACGCGGCCGCCGCCTTCGGCCTGCGCGAC       c.360
 L  T  S  D  N  C  A  L  L  C  D  A  A  A  A  F  G  L  R  D         p.120

          .         .         .         .         .         .       g.420
 GTGTTCCACAGTGCCGCGCTCTTCATCTGCGACGGCGAGCGCGAGCTGGCGGCCGAACTG       c.420
 V  F  H  S  A  A  L  F  I  C  D  G  E  R  E  L  A  A  E  L         p.140

          .         .         .         .         .         .       g.480
 GCGCTGCCTGAGGCCCGCGCCTACGTGGCGGCCCTGCGGCCCAGCAGCTACGCGGCCGTG       c.480
 A  L  P  E  A  R  A  Y  V  A  A  L  R  P  S  S  Y  A  A  V         p.160

          .         .         .         .         .         .       g.540
 AGCACGCACACGCCCGCGCCCGGCTTCCTGGAGGACGCCTCGCGCACGCTGTGTTACCTG       c.540
 S  T  H  T  P  A  P  G  F  L  E  D  A  S  R  T  L  C  Y  L         p.180

          .         .         .         .         .         .       g.600
 GACGAGGAAGAGGACGCGTGGCGCACGCTGGCTGCGCTGCCCCTGGAGGCCAGCACGTTG       c.600
 D  E  E  E  D  A  W  R  T  L  A  A  L  P  L  E  A  S  T  L         p.200

          .         .         .         .         .         .       g.660
 CTGGCCGGGGTGGCCACGCTGGGCAACAAGCTTTACATCGTGGGGGGCGTGCGCGGCGCC       c.660
 L  A  G  V  A  T  L  G  N  K  L  Y  I  V  G  G  V  R  G  A         p.220

          .         .         .         .         .         .       g.720
 AGCAAGGAGGTGGTAGAGCTGGGCTTCTGCTACGACCCCGACGGCGGCACGTGGCACGAG       c.720
 S  K  E  V  V  E  L  G  F  C  Y  D  P  D  G  G  T  W  H  E         p.240

          .         .         .         .         .         .       g.780
 TTCCCCAGCCCGCACCAGCCGCGCTATGACACAGCGCTGGCCGGCTTCGACGGCCGCCTC       c.780
 F  P  S  P  H  Q  P  R  Y  D  T  A  L  A  G  F  D  G  R  L         p.260

          .         .         .         .         .         .       g.840
 TACGCCATCGGCGGCGAATTCCAGAGGACGCCCATCAGCTCCGTGGAGCGCTACGACCCA       c.840
 Y  A  I  G  G  E  F  Q  R  T  P  I  S  S  V  E  R  Y  D  P         p.280

          .         .         .         .         .         .       g.900
 GCCGCGGGCTGCTGGAGTTTCGTGGCCGACCTGCCGCAGCCGGCCGCCGGCGTGCCCTGC       c.900
 A  A  G  C  W  S  F  V  A  D  L  P  Q  P  A  A  G  V  P  C         p.300

          .         .         .         .         .         .       g.960
 GCCCAGGCTTGTGGCCGTCTCTTCGTGTGCCTGTGGCGGCCGGCCGACACCACCGCCGTG       c.960
 A  Q  A  C  G  R  L  F  V  C  L  W  R  P  A  D  T  T  A  V         p.320

          .         .         .         .         .         .       g.1020
 GTGGAGTACGCAGTGCGGACCGACGCGTGGCTGCCAGTGGCCGAGCTGCGGCGTCCGCAG       c.1020
 V  E  Y  A  V  R  T  D  A  W  L  P  V  A  E  L  R  R  P  Q         p.340

          .         .         .         .         .         .       g.1080
 AGCTATGGCCACTGCATGGTGGCCCACCGCGACAGCCTCTATGTGGTGCGCAACGGACCT       c.1080
 S  Y  G  H  C  M  V  A  H  R  D  S  L  Y  V  V  R  N  G  P         p.360

          .         .         .         .         .         .       g.1140
 TCCGACGACTTCCTGCACTGCGCCATCGACTGTCTCAACCTGGCCACGGGCCAGTGGACG       c.1140
 S  D  D  F  L  H  C  A  I  D  C  L  N  L  A  T  G  Q  W  T         p.380

          .         .         .         .         .         .       g.1200
 GCGCTGCCCGGCCAGTTCGTCAACAGCAAGGGAGCGCTCTTCACGGCCGTGGTGCGCGGT       c.1200
 A  L  P  G  Q  F  V  N  S  K  G  A  L  F  T  A  V  V  R  G         p.400

          .         .         .         .         .         .       g.1260
 GACACCGTCTATACGGTCAACCGCATGTTCACGCTGCTCTACGCCATCGAGGGCGGCACC       c.1260
 D  T  V  Y  T  V  N  R  M  F  T  L  L  Y  A  I  E  G  G  T         p.420

          .         .         .         .         .         .       g.1320
 TGGCGGCTGCTCAGGGAGAAAGCCGGCTTCCCGCGGCCCGGCTCCTTGCAGACCTTTCTC       c.1320
 W  R  L  L  R  E  K  A  G  F  P  R  P  G  S  L  Q  T  F  L         p.440

          .         .         .         .         .                 g.1377
 CTAAGGCTGCCTCCTGGCGCTCCTGGGCCTGTGACTTCGACAACGGCAGAACTGTGA          c.1377
 L  R  L  P  P  G  A  P  G  P  V  T  S  T  T  A  E  L  X            p.458

          .         .         .         .         .         .       g.1437
 cctctgggctggctttaggagggaggagacgccgcgactcctccctgagctatggctgag       c.*60

          .         .         .         .         .         .       g.1497
 tgtgtgaggccggccttagaagtagctggcaacttccctctttctactgagacacccagg       c.*120

          .         .         .         .         .         .       g.1557
 tttggtgccttctggtggtgtggacatgttcaagaagctcagggagcagtgatgatgccc       c.*180

          .         .         .         .         .         .       g.1617
 tcaaattacttgggctctgctgagagctggtgggtcacaatgtcagtgaacagggtaggg       c.*240

          .         .         .         .         .         .       g.1677
 ggagttgggatttgaataatccgggcttatatgtaatgggctagtgattgagcatcgctg       c.*300

          .         .         .         .         .         .       g.1737
 ggagcgacttaaatgatgttaatcaaactgcaagtagtaggcaagaattaggcacctact       c.*360

          .         .         .         .         .         .       g.1797
 gtatgcccaatacagtgttatgcgtaatgagagccgtagttgccacacagggatccagga       c.*420

          .         .         .         .         .         .       g.1857
 agcttaaaggataacccagaaaacaatcttaacagttacaggacaacaaaaaggtttaca       c.*480

          .         .         .         .         .         .       g.1917
 cacaacttgatccacagagttgaaggcaacatgcaaaaaaatttaaaaccgcatacaata       c.*540

          .         .         .         .         .         .       g.1977
 taataaaataaagtgctgaagaaatcagggcaaagggaaaataggaagagaaaaaatata       c.*600

          .         .         .         .         .         .       g.2037
 taactccagaaaagaagagagtgtgcaaactctatggaggagatgagcaggataccatta       c.*660

          .         .         .         .         .         .       g.2097
 gctgctgaaaggggaggcttagaccatggaggctgagagctcagaagagaagcagggttg       c.*720

          .         .         .         .         .         .       g.2157
 gggaaggctggagcagatggggagggtctctgcaagtccagccataccagcagagcagca       c.*780

          .         .         .         .         .         .       g.2217
 gtagttggggcatctagagaggggatgagactgggccagcttgcagcagataatgactga       c.*840

          .         .         .         .         .         .       g.2277
 gctgagcctggagtgagacctgtgggggcgagaggattcttcacgttcctttttggaacc       c.*900

          .         .         .         .         .         .       g.2337
 cttaggggagcacccaggtgtaagcccttgcccaccctgtttttgccatcaccacggggc       c.*960

          .         .         .         .         .         .       g.2397
 agtggactgttaacccacatgacttcaggtcagttgaggtatgagccaaatcctgcctca       c.*1020

          .         .         .         .         .         .       g.2457
 tcttcctcagttgtagcccctcctccacattctacaggtttgttctcttcctgtcctatt       c.*1080

          .         .         .         .         .         .       g.2517
 ctgccctttgcaattccctgggctggaatgcctagtctcctcctctctccctgtcagtgc       c.*1140

          .         .         .         .         .         .       g.2577
 tctaccatcctctgtgcagcattggctcacccagctcttcgttttcctgacctgggctgc       c.*1200

          .         .         .         .         .         .       g.2637
 ctgcattgctcattggacccctggctgtaacatcattgtgtgtgcacaaccacgtgtgtg       c.*1260

          .         .         .         .         .         .       g.2697
 gattgtaagggcagagatcctgttaagtgagctgggggacttccctgtcccagattaaaa       c.*1320

          .         .         .         .         .         .       g.2757
 tgatgatgccttgaaagaacccaggctacagaggccactagttaggaacctagtgctgac       c.*1380

          .         .         .         .         .         .       g.2817
 ctctgttgttggatgaggactctcgttccttcatcaaaatccccagctctggcttctggg       c.*1440

          .         .         .         .         .         .       g.2877
 cagatgcctgtcccagccctttccagcctctccatggccttgggaagacttctctgggtg       c.*1500

          .         .         .         .         .         .       g.2937
 gttctcattggtctccatcccccaggacctgaggcccatggggaatcttggcctcgtcag       c.*1560

          .         .         .         .         .         .       g.2997
 aagtggagaatgcagtgtcagcatgacacctccggggcatggaggctcgcgccagggctg       c.*1620

          .         .         .         .         .         .       g.3057
 cacctagctgcctcttctcctggcctatgtcccaaccctggagaatgctgccctcagaag       c.*1680

          .         .         .         .         .         .       g.3117
 cctgggaccttccagccctggagtagcctagtctgataagtctcaacaataaaccctgac       c.*1740

                                                                    g.3123
 ttttgc                                                             c.*1746

 (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 10th nucleotide is indicated by a "." above the sequence. The Kelch repeat and BTB (POZ) domain containing 13 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

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