Kelch repeat and BTB (POZ) domain containing 5 (KBTBD5) - coding DNA reference sequence

(used for mutation description)

(last modified December 20, 2012)


This file was created to facilitate the description of sequence variants in the KBTBD5 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_033035.1, covering KBTBD5 transcript NM_152393.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5040
                     cctcgaagacagctgctcagtctaagcaaaccccagcagg       c.-61

 .         .         .         .         .         .                g.5100
 aaagcaggggtacagagaggagcccccttggcaccgccaccgcaccctaggccacccacc       c.-1

          .         .         .         .         .         .       g.5160
 ATGGCGCTGGGCTTGGAGCAGGCGGAGGAGCAGCGGTTGTACCAGCAGACGCTCCTGCAA       c.60
 M  A  L  G  L  E  Q  A  E  E  Q  R  L  Y  Q  Q  T  L  L  Q         p.20

          .         .         .         .         .         .       g.5220
 GACGGGCTCAAAGACATGCTGGACCATGGCAAGTTCCTCGACTGTGTGGTGCGGGCGGGC       c.120
 D  G  L  K  D  M  L  D  H  G  K  F  L  D  C  V  V  R  A  G         p.40

          .         .         .         .         .         .       g.5280
 GAGCGCGAGTTCCCGTGCCATCGCCTGGTGCTGGCCGCCTGCAGCCCCTACTTCCGGGCG       c.180
 E  R  E  F  P  C  H  R  L  V  L  A  A  C  S  P  Y  F  R  A         p.60

          .         .         .         .         .         .       g.5340
 CGCTTTCTAGCCGAGCCGGAGCGCGCGGGCGAGCTGCACCTGGAGGAGGTGTCCCCGGAC       c.240
 R  F  L  A  E  P  E  R  A  G  E  L  H  L  E  E  V  S  P  D         p.80

          .         .         .         .         .         .       g.5400
 GTGGTGGCCCAGGTGCTGCACTACCTGTACACATCAGAGATCGCGCTGGATGAGGCGAGC       c.300
 V  V  A  Q  V  L  H  Y  L  Y  T  S  E  I  A  L  D  E  A  S         p.100

          .         .         .         .         .         .       g.5460
 GTGCAGGATTTGTTCGCCGCGGCACACCGCTTCCAGATCCCTTCCATCTTCACCATCTGC       c.360
 V  Q  D  L  F  A  A  A  H  R  F  Q  I  P  S  I  F  T  I  C         p.120

          .         .         .         .         .         .       g.5520
 GTGTCCTTCCTGCAGAAGCGCCTGTGCCTCTCCAACTGCTTGGCCGTCTTCCGTCTCGGC       c.420
 V  S  F  L  Q  K  R  L  C  L  S  N  C  L  A  V  F  R  L  G         p.140

          .         .         .         .         .         .       g.5580
 CTCCTGCTCGACTGCGCGCGTCTCGCCGTGGCTGCCCGCGACTTCATCTGCGCTCACTTC       c.480
 L  L  L  D  C  A  R  L  A  V  A  A  R  D  F  I  C  A  H  F         p.160

          .         .         .         .         .         .       g.5640
 ACGCTGGTGGCGCGCGACGCTGACTTCCTCGGACTCTCGGCCGACGAGCTCATCGCCATC       c.540
 T  L  V  A  R  D  A  D  F  L  G  L  S  A  D  E  L  I  A  I         p.180

          .         .         .         .         .         .       g.5700
 ATCTCCAGCGACGGCCTTAACGTGGAGAAGGAGGAGGCAGTGTTCGAGGCGGTGATGCGG       c.600
 I  S  S  D  G  L  N  V  E  K  E  E  A  V  F  E  A  V  M  R         p.200

          .         .         .         .         .         .       g.5760
 TGGGCGGGTAGCGGCGACGCCGAGGCGCAGGCTGAGCGCCAGCGCGCGCTGCCCACCGTC       c.660
 W  A  G  S  G  D  A  E  A  Q  A  E  R  Q  R  A  L  P  T  V         p.220

          .         .         .         .         .         .       g.5820
 TTCGAGAGCGTGCGCTGCCGCTTGCTGCCGCGCGCCTTTCTGGAAAGCCGCGTGGAGCGC       c.720
 F  E  S  V  R  C  R  L  L  P  R  A  F  L  E  S  R  V  E  R         p.240

          .         .         .         .         .         .       g.5880
 CACCCTCTCGTGCGTGCCCAGCCCGAGTTGCTGCGCAAGGTGCAGATGGTGAAGGATGCA       c.780
 H  P  L  V  R  A  Q  P  E  L  L  R  K  V  Q  M  V  K  D  A         p.260

          .         .         .         .         .         .       g.5940
 CACGAGGGCCGCATCACCACGCTGCGGAAGAAAAAGAAGGGGAAGGATGGAGCCGGGGCC       c.840
 H  E  G  R  I  T  T  L  R  K  K  K  K  G  K  D  G  A  G  A         p.280

          .         .         .         .         .         .       g.6000
 AAGGAGGCTGATAAGGGCACAAGCAAAGCCAAAGCAGAGGAGGATGAGGAGGCCGAACGT       c.900
 K  E  A  D  K  G  T  S  K  A  K  A  E  E  D  E  E  A  E  R         p.300

          .         .         .         .         .         .       g.6060
 ATCCTTCCTGGGATCCTCAATGACACCCTGCGCTTCGGCATGTTCCTGCAGGATCTCATC       c.960
 I  L  P  G  I  L  N  D  T  L  R  F  G  M  F  L  Q  D  L  I         p.320

          .         .         .         .         .         .       g.6120
 TTCATGATCAGTGAGGAGGGCGCTGTGGCCTACGATCCAGCAGCCAACGAGTGCTACTGT       c.1020
 F  M  I  S  E  E  G  A  V  A  Y  D  P  A  A  N  E  C  Y  C         p.340

          .         .         .         .         .         .       g.6180
 GCTTCCCTCTCCAACCAGGTCCCCAAGAACCACGTCAGCCTGGTTACCAAGGAGAACCAG       c.1080
 A  S  L  S  N  Q  V  P  K  N  H  V  S  L  V  T  K  E  N  Q         p.360

          .         .         .         .         .         .       g.6240
 GTCTTCGTGGCTGGAGGCCTCTTCTACAACGAAGACAACAAAGAGGACCCCATGAGCGCA       c.1140
 V  F  V  A  G  G  L  F  Y  N  E  D  N  K  E  D  P  M  S  A         p.380

          .   | 02     .         .         .         .         .    g.7671
 TACTTCCTGCAG | TTTGACCATCTGGACTCAGAGTGGCTGGGGATGCCACCGCTGCCCTCG    c.1200
 Y  F  L  Q   | F  D  H  L  D  S  E  W  L  G  M  P  P  L  P  S      p.400

          .         .         .         .         .         .       g.7731
 CCCCGCTGCCTCTTTGGCCTGGGAGAAGCTCTCAACTCCATCTACGTGGTCGGTGGCAGA       c.1260
 P  R  C  L  F  G  L  G  E  A  L  N  S  I  Y  V  V  G  G  R         p.420

          .         .         .         .         .    | 03    .    g.8098
 GAGATCAAGGACGGCGAGCGCTGCCTGGACTCGGTCATGTGCTACGACAGGCT | GTCATTC    c.1320
 E  I  K  D  G  E  R  C  L  D  S  V  M  C  Y  D  R  L  |  S  F      p.440

          .         .         .         .         .         .       g.8158
 AAATGGGGTGAATCGGACCCGCTGCCTTACGTGGTGTATGGCCACACAGTGCTCTCCCAC       c.1380
 K  W  G  E  S  D  P  L  P  Y  V  V  Y  G  H  T  V  L  S  H         p.460

          .         .         .         .  | 04      .         .    g.8369
 ATGGACCTTGTCTACGTAATTGGCGGCAAAGGCAGTGACAG | GAAGTGCCTGAACAAGATG    c.1440
 M  D  L  V  Y  V  I  G  G  K  G  S  D  R  |  K  C  L  N  K  M      p.480

          .         .         .         .         .         .       g.8429
 TGCGTCTATGACCCCAAGAAGTTTGAGTGGAAGGAGCTGGCACCCATGCAGACCGCCCGC       c.1500
 C  V  Y  D  P  K  K  F  E  W  K  E  L  A  P  M  Q  T  A  R         p.500

          .         .         .         .         .         .       g.8489
 TCACTCTTTGGGGCCACTGTCCATGATGGCCGCATTATCGTGGCAGCTGGGGTCACCGAC       c.1560
 S  L  F  G  A  T  V  H  D  G  R  I  I  V  A  A  G  V  T  D         p.520

          .         .         .         .        | 05.         .    g.10353
 ACAGGGCTGACCAGTTCTGCCGAAGTGTACAGCATCACAGACAACAA | GTGGGCACCCTTC    c.1620
 T  G  L  T  S  S  A  E  V  Y  S  I  T  D  N  K  |  W  A  P  F      p.540

          .         .         .         .         .         .       g.10413
 GAGGCCTTCCCACAGGAGCGTAGCTCACTCAGCCTGGTCAGCCTGGTGGGTACCCTCTAT       c.1680
 E  A  F  P  Q  E  R  S  S  L  S  L  V  S  L  V  G  T  L  Y         p.560

          .         .         .         .         .         .       g.10473
 GCCATTGGTGGCTTTGCCACACTGGAGACGGAGTCTGGAGAGCTGGTTCCCACAGAGCTC       c.1740
 A  I  G  G  F  A  T  L  E  T  E  S  G  E  L  V  P  T  E  L         p.580

          .     | 06   .         .         .         .         .    g.11409
 AATGACATCTGGAG | GTATAACGAGGAGGAGAAGAAATGGGAGGGTGTCCTGCGGGAGATC    c.1800
 N  D  I  W  R  |  Y  N  E  E  E  K  K  W  E  G  V  L  R  E  I      p.600

          .         .         .         .         .         .       g.11469
 GCCTATGCAGCAGGTGCCACCTTCCTACCAGTGCGGCTCAATGTGCTGTGCCTGACTAAG       c.1860
 A  Y  A  A  G  A  T  F  L  P  V  R  L  N  V  L  C  L  T  K         p.620

                                                                    g.11475
 ATGTGA                                                             c.1866
 M  X                                                               p.621

          .         .         .         .         .         .       g.11535
 ccagctcaggcagactgaactaagcacccctcccatcctgcgaccctcactggcctggcc       c.*60

          .         .         .         .         .         .       g.11595
 ttgtgggggctccagaaaagaggctaggagaggccagagtctacctggatccagttatgg       c.*120

          .         .         .         .         .         .       g.11655
 tgcctcaggggctgcgtcagccaaggaaagggaagtgctgcttagtcctggacttttggg       c.*180

          .         .         .         .         .         .       g.11715
 caagggtgagaaactagaggcttctccagtgttgccatatccccctaggttgtcttgatc       c.*240

          .         .         .         .         .         .       g.11775
 catgaaccagaaccacagggcggtatcccaggccgtgtgctggccctgccccagcctagc       c.*300

          .         .         .         .         .         .       g.11835
 tgagtgtgctggcaaagttccccacaggactcagccttctcgtctgtccgatgggagcat       c.*360

          .         .         .         .         .         .       g.11895
 ccccatcaagtgcagtgtacagtgcagatatgtctccttctttaggaagaataaagtgcc       c.*420

          .         .         .                                     g.11928
 ttctgagcaagcagctcagggtctgcatcagtg                                  c.*453

 (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 5 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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