cyclin-dependent kinase 4 (CDK4) - coding DNA reference sequence

(used for variant description)

(last modified April 17, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_000075.3 in the CDK4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007484.2, covering CDK4 transcript NM_000075.3.

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

 (upstream sequence)
           .         .         .         .         .                g.5052
         cacctcctgtccgcccctcagcgcatgggtggcggtcacgtgcccagaacgt       c.-241

 .         .         .         .         .         .                g.5112
 ccggcgttcgccccgccctcccagtttccgcgcgcctctttggcagctggtcacatggtg       c.-181

 .         .         .         .         .         .                g.5172
 agggtgggggtgagggggcctctctagcttgcggcctgtgtctatggtcgggccctctgc       c.-121

 .         .         .         .         .         .                g.5232
 gtccagctgctccggaccgagctcgggtgtatggggccgtaggaaccggctccggggccc       c.-61

 .         .         .         .         . | 02       .             g.5730
 cgataacgggccgcccccacagcaccccgggctggcgtgag | ggtctcccttgatctgaga    c.-1

          .         .         .         .         .         .       g.5790
 ATGGCTACCTCTCGATATGAGCCAGTGGCTGAAATTGGTGTCGGTGCCTATGGGACAGTG       c.60
 M  A  T  S  R  Y  E  P  V  A  E  I  G  V  G  A  Y  G  T  V         p.20

          .         .         .         .         .         .       g.5850
 TACAAGGCCCGTGATCCCCACAGTGGCCACTTTGTGGCCCTCAAGAGTGTGAGAGTCCCC       c.120
 Y  K  A  R  D  P  H  S  G  H  F  V  A  L  K  S  V  R  V  P         p.40

          .         .         .         .         .         .       g.5910
 AATGGAGGAGGAGGTGGAGGAGGCCTTCCCATCAGCACAGTTCGTGAGGTGGCTTTACTG       c.180
 N  G  G  G  G  G  G  G  L  P  I  S  T  V  R  E  V  A  L  L         p.60

          .         .         .         | 03         .         .    g.6127
 AGGCGACTGGAGGCTTTTGAGCATCCCAATGTTGTCCG | GCTGATGGACGTCTGTGCCACA    c.240
 R  R  L  E  A  F  E  H  P  N  V  V  R  |  L  M  D  V  C  A  T      p.80

          .         .         .         .         .         .       g.6187
 TCCCGAACTGACCGGGAGATCAAGGTAACCCTGGTGTTTGAGCATGTAGACCAGGACCTA       c.300
 S  R  T  D  R  E  I  K  V  T  L  V  F  E  H  V  D  Q  D  L         p.100

          .         .         .         .         .     | 04   .    g.6363
 AGGACATATCTGGACAAGGCACCCCCACCAGGCTTGCCAGCCGAAACGATCAAG | GATCTG    c.360
 R  T  Y  L  D  K  A  P  P  P  G  L  P  A  E  T  I  K   | D  L      p.120

          .         .         .         .         .         .       g.6423
 ATGCGCCAGTTTCTAAGAGGCCTAGATTTCCTTCATGCCAATTGCATCGTTCACCGAGAT       c.420
 M  R  Q  F  L  R  G  L  D  F  L  H  A  N  C  I  V  H  R  D         p.140

          .         .         .         .         .         .       g.6483
 CTGAAGCCAGAGAACATTCTGGTGACAAGTGGTGGAACAGTCAAGCTGGCTGACTTTGGC       c.480
 L  K  P  E  N  I  L  V  T  S  G  G  T  V  K  L  A  D  F  G         p.160

          .         .         .         .   | 05     .         .    g.6700
 CTGGCCAGAATCTACAGCTACCAGATGGCACTTACACCCGTG | GTTGTTACACTCTGGTAC    c.540
 L  A  R  I  Y  S  Y  Q  M  A  L  T  P  V   | V  V  T  L  W  Y      p.180

          .         .         .         .         .         .       g.6760
 CGAGCTCCCGAAGTTCTTCTGCAGTCCACATATGCAACACCTGTGGACATGTGGAGTGTT       c.600
 R  A  P  E  V  L  L  Q  S  T  Y  A  T  P  V  D  M  W  S  V         p.200

          .         .         .   | 06     .         .         .    g.7971
 GGCTGTATCTTTGCAGAGATGTTTCGTCGAAA | GCCTCTCTTCTGTGGAAACTCTGAAGCC    c.660
 G  C  I  F  A  E  M  F  R  R  K  |  P  L  F  C  G  N  S  E  A      p.220

          .         .    | 07    .         .         .         .    g.8167
 GACCAGTTGGGCAAAATCTTTGA | CCTGATTGGGCTGCCTCCAGAGGATGACTGGCCTCGA    c.720
 D  Q  L  G  K  I  F  D  |  L  I  G  L  P  P  E  D  D  W  P  R      p.240

          .         .         .         .         .         .       g.8227
 GATGTATCCCTGCCCCGTGGAGCCTTTCCCCCCAGAGGGCCCCGCCCAGTGCAGTCGGTG       c.780
 D  V  S  L  P  R  G  A  F  P  P  R  G  P  R  P  V  Q  S  V         p.260

          .         .         .          | 08        .         .    g.8851
 GTACCTGAGATGGAGGAGTCGGGAGCACAGCTGCTGCTG | GAAATGCTGACTTTTAACCCA    c.840
 V  P  E  M  E  E  S  G  A  Q  L  L  L   | E  M  L  T  F  N  P      p.280

          .         .         .         .         .         .       g.8911
 CACAAGCGAATCTCTGCCTTTCGAGCTCTGCAGCACTCTTATCTACATAAGGATGAAGGT       c.900
 H  K  R  I  S  A  F  R  A  L  Q  H  S  Y  L  H  K  D  E  G         p.300

          .                                                         g.8923
 AATCCGGAGTGA                                                       c.912
 N  P  E  X                                                         p.303

          .         .         .         .         .         .       g.8983
 gcaatggagtggctgccatggaaggaagaaaagctgccatttcccttctggacactgaga       c.*60

          .         .         .         .         .         .       g.9043
 gggcaatctttgcctttatctctgaggctatggagggtcctcctccatctttctacagag       c.*120

          .         .         .         .         .         .       g.9103
 attactttgctgccttaatgacattcccctcccacctctccttttgaggcttctccttct       c.*180

          .         .         .         .         .         .       g.9163
 ccttcccatttctctacactaaggggtatgttccctcttgtccctttccctacctttata       c.*240

          .         .         .         .         .         .       g.9223
 tttggggtccttttttatacaggaaaaacaaaacaaagaaataatggtcttttttttttt       c.*300

          .         .         .         .         .         .       g.9283
 tttaatgtttcttcctctgtttggctttgccattgtgcgatttggaaaaaccacttggaa       c.*360

          .         .         .         .         .         .       g.9343
 gaagggactttcctgcaaaaccttaaagactggttaaattacagggcctaggaagtcagt       c.*420

          .         .         .         .         .         .       g.9403
 ggagccccttgactgacaaagcttagaaaggaactgaaattgcttctttgaatatggatt       c.*480

          .         .         .         .         .         .       g.9463
 ttaggcggggcgtggtggctcacgcctataatcccagcacgttgggaggccaacgcgggt       c.*540

          .         .         .         .         .         .       g.9523
 ggatcacctgaggtcaggagttcgagaccagcctgactaacatggtgaaaccctgtctct       c.*600

          .         .         .         .         .         .       g.9583
 actaaaaatacaaaattagtcaggcgtggtggtgcacacctgtaatcccagctacttggg       c.*660

          .         .         .         .         .         .       g.9643
 agactgaggcaggaggatcgcttgaacccgggaggcagaggttgcggtgagccgagatca       c.*720

          .         .         .         .         .         .       g.9703
 tgccattgcactccagcctgggcaacagagcaagactctgtgtcaaaaaaaaaaaaagaa       c.*780

          .                                                         g.9721
 tatagatttttaaatggc                                                 c.*798

 (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 Cyclin-dependent kinase 4 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.