cyclin-dependent kinase 5, regulatory subunit 1 (p35) (CDK5R1) - coding DNA reference sequence

(used for variant description)

(last modified January 19, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_003885.2 in the CDK5R1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000017.10, covering CDK5R1 transcript NM_003885.2.

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

 (upstream sequence)
                     .         .         .         .                g.5041
                    gagcgccgggaccgcggcggcggggccgcggcgcgcattgc       c.-181

 .         .         .         .     | 02   .         .             g.5414
 ggagggcgcggagcgcaggagctgccgcctgccgg | gcagatccaagggggcagcacgctt    c.-121

 .         .         .         .         .         .                g.5474
 cccgggagcgcccccgcctcctctccggggccgccgcaggctcggtgagcggttttatcc       c.-61

 .         .         .         .         .         .                g.5534
 ctccggccggcaggctgggcgcgcaggggcgcgagcccccgcccggcgcgcagcagcacc       c.-1

          .         .         .         .         .         .       g.5594
 ATGGGCACGGTGCTGTCCCTGTCTCCCAGCTACCGGAAGGCCACGCTGTTTGAGGATGGC       c.60
 M  G  T  V  L  S  L  S  P  S  Y  R  K  A  T  L  F  E  D  G         p.20

          .         .         .         .         .         .       g.5654
 GCGGCCACCGTGGGCCACTATACGGCCGTACAGAACAGCAAGAACGCCAAGGACAAGAAC       c.120
 A  A  T  V  G  H  Y  T  A  V  Q  N  S  K  N  A  K  D  K  N         p.40

          .         .         .         .         .         .       g.5714
 CTGAAGCGCCACTCCATCATCTCCGTGCTGCCTTGGAAGAGAATCGTGGCCGTGTCGGCC       c.180
 L  K  R  H  S  I  I  S  V  L  P  W  K  R  I  V  A  V  S  A         p.60

          .         .         .         .         .         .       g.5774
 AAGAAGAAGAACTCCAAGAAGGTGCAGCCCAACAGCAGCTACCAGAACAACATCACGCAC       c.240
 K  K  K  N  S  K  K  V  Q  P  N  S  S  Y  Q  N  N  I  T  H         p.80

          .         .         .         .         .         .       g.5834
 CTCAACAATGAGAACCTGAAGAAGTCGCTGTCGTGCGCCAACCTGTCCACATTCGCCCAG       c.300
 L  N  N  E  N  L  K  K  S  L  S  C  A  N  L  S  T  F  A  Q         p.100

          .         .         .         .         .         .       g.5894
 CCCCCACCGGCCCAGCCGCCTGCACCCCCGGCCAGCCAGCTCTCGGGTTCCCAGACCGGG       c.360
 P  P  P  A  Q  P  P  A  P  P  A  S  Q  L  S  G  S  Q  T  G         p.120

          .         .         .         .         .         .       g.5954
 GGCTCCTCCTCAGTCAAGAAAGCCCCTCACCCTGCCGTCACCTCCGCAGGGACGCCCAAA       c.420
 G  S  S  S  V  K  K  A  P  H  P  A  V  T  S  A  G  T  P  K         p.140

          .         .         .         .         .         .       g.6014
 CGGGTCATCGTCCAGGCGTCCACCAGTGAGCTGCTTCGCTGCCTGGGTGAGTTTCTCTGC       c.480
 R  V  I  V  Q  A  S  T  S  E  L  L  R  C  L  G  E  F  L  C         p.160

          .         .         .         .         .         .       g.6074
 CGCCGGTGCTACCGCCTGAAGCACCTGTCCCCCACGGACCCCGTGCTCTGGCTGCGCAGC       c.540
 R  R  C  Y  R  L  K  H  L  S  P  T  D  P  V  L  W  L  R  S         p.180

          .         .         .         .         .         .       g.6134
 GTGGACCGCTCGCTGCTTCTGCAGGGCTGGCAGGACCAGGGCTTCATCACGCCGGCCAAC       c.600
 V  D  R  S  L  L  L  Q  G  W  Q  D  Q  G  F  I  T  P  A  N         p.200

          .         .         .         .         .         .       g.6194
 GTGGTCTTCCTCTACATGCTCTGCAGGGATGTTATCTCCTCCGAGGTGGGCTCGGATCAC       c.660
 V  V  F  L  Y  M  L  C  R  D  V  I  S  S  E  V  G  S  D  H         p.220

          .         .         .         .         .         .       g.6254
 GAGCTCCAGGCCGTCCTGCTGACATGCCTGTACCTCTCCTACTCCTACATGGGCAACGAG       c.720
 E  L  Q  A  V  L  L  T  C  L  Y  L  S  Y  S  Y  M  G  N  E         p.240

          .         .         .         .         .         .       g.6314
 ATCTCCTACCCGCTCAAGCCCTTCCTGGTGGAGAGCTGCAAGGAGGCCTTTTGGGACCGT       c.780
 I  S  Y  P  L  K  P  F  L  V  E  S  C  K  E  A  F  W  D  R         p.260

          .         .         .         .         .         .       g.6374
 TGCCTCTCTGTCATCAACCTCATGAGCTCAAAGATGCTGCAGATAAATGCCGACCCACAC       c.840
 C  L  S  V  I  N  L  M  S  S  K  M  L  Q  I  N  A  D  P  H         p.280

          .         .         .         .         .         .       g.6434
 TACTTCACACAGGTCTTCTCCGACCTGAAGAACGAGAGCGGCCAGGAGGACAAGAAGCGG       c.900
 Y  F  T  Q  V  F  S  D  L  K  N  E  S  G  Q  E  D  K  K  R         p.300

          .         .                                               g.6458
 CTCCTCCTAGGCCTGGATCGGTGA                                           c.924
 L  L  L  G  L  D  R  X                                             p.307

          .         .         .         .         .         .       g.6518
 gcactgtagcctgcgtcatggctcaaggattcaatgcatttttaagaatttattattaaa       c.*60

          .         .         .         .         .         .       g.6578
 tcagttttgtgtacagtatgtgtctagcaaagccaccaagggcctcacctttcccacagt       c.*120

          .         .         .         .         .         .       g.6638
 ctctccctggggtttttttcatccctgccaagaactctgggcacttttgaactcacgagc       c.*180

          .         .         .         .         .         .       g.6698
 cttgcgcaaaacccagaagatgtattcagagccacccaggccactgacctcccactttgg       c.*240

          .         .         .         .         .         .       g.6758
 ggaactcaaaggactgacctgcccctgccgcctgtgcccttgctgggtccagggtaggca       c.*300

          .         .         .         .         .         .       g.6818
 aggctgccggctgcaccctgtatggagctagagaggggcctctggctgcctggcccaggg       c.*360

          .         .         .         .         .         .       g.6878
 aggaattggggtttctggttggaggcccttttctggctcctgtgtggagttattcactct       c.*420

          .         .         .         .         .         .       g.6938
 cccagaggctcctggagccagccaccctaactgagctgccagtggggtcgtgaggcaaga       c.*480

          .         .         .         .         .         .       g.6998
 tccccgccacccggggacatcttcaatctaggcgaggcgaagctgagcgggtctagtgga       c.*540

          .         .         .         .         .         .       g.7058
 aagattgtgtctggtcgtttgaccacacaccgccctgatttgctgttttctttttttagg       c.*600

          .         .         .         .         .         .       g.7118
 gagaagggcttttctttagtggagaaatggaactcgcccccctacccccttgtctgctgc       c.*660

          .         .         .         .         .         .       g.7178
 tcccagccacgttggtggtattggccgatgagctggtttgactcattaatttctctcaat       c.*720

          .         .         .         .         .         .       g.7238
 ttgggtcccagctaaagaggtggggtgaagctggggacagctttcctgggtgagtttttc       c.*780

          .         .         .         .         .         .       g.7298
 ttttgaataatgtagtgcagtcaccctgtggcaaatgccaggacagctgcaggtgcccat       c.*840

          .         .         .         .         .         .       g.7358
 tagcaacgcctgccttctgggcaaggtgagggatgccataccttgagaccaagccggtgc       c.*900

          .         .         .         .         .         .       g.7418
 ccacctaagggctaaggcctcttgctggtgcacatgacatttgtcctgcagagctggggg       c.*960

          .         .         .         .         .         .       g.7478
 gaaggcgatgtggtgaccccacccccacccgttaatttaaagctgtttctaaacagttga       c.*1020

          .         .         .         .         .         .       g.7538
 gtttcttctaaagaggaagccttgcccagcaaggaccagtgagacagccggatcttggag       c.*1080

          .         .         .         .         .         .       g.7598
 acaattacaagacggggagtgagactcctgattgctctggaagcctgctgatttctacaa       c.*1140

          .         .         .         .         .         .       g.7658
 ctgatcatttgcagctgctggttttggtttccaccttaccctactggctgtaaaaacaca       c.*1200

          .         .         .         .         .         .       g.7718
 aatgtgtactttattgattttctttctaattctcccgcattggtggcttgggacttggga       c.*1260

          .         .         .         .         .         .       g.7778
 gagggagcaagccttcctccatggcccatcactcggctgtggagaacaaagaccaatgtg       c.*1320

          .         .         .         .         .         .       g.7838
 aagacactacagaggattctgtcttccaggcccagtccactggggagtgctggaatgggg       c.*1380

          .         .         .         .         .         .       g.7898
 acctggggtggggaggcagagggtcactttacataggattaagttcgaggtggctaccga       c.*1440

          .         .         .         .         .         .       g.7958
 tttcagcacatgcactactgaaatttacacaaaaagaaagctgtgaaattgaagtcccaa       c.*1500

          .         .         .         .         .         .       g.8018
 tttaagagtcctgaggcagaacctggtggctggaggcattcccagaggtggggaagagag       c.*1560

          .         .         .         .         .         .       g.8078
 cctgcccggccggagaacatctgccttgctgcacctgaggcccagcagagccgttcctgg       c.*1620

          .         .         .         .         .         .       g.8138
 gactgtcagataatcggtgcagcggtggaaggagcctgcggctgctggcacagacttcac       c.*1680

          .         .         .         .         .         .       g.8198
 acagcacctcctctctgctgggtttccacacagcctgtcttcagatcctgctgccgcgtg       c.*1740

          .         .         .         .         .         .       g.8258
 cgaccagaggtgggaggcccctggtggcatggaagagggagggtcagtgccaagtctcag       c.*1800

          .         .         .         .         .         .       g.8318
 gaggagggcgcatgtgtgtatcaccctcagctggcggaacctggctgcgaactgtgcagt       c.*1860

          .         .         .         .         .         .       g.8378
 tacgttgcatccacaggattccagttgcgtgtctgtttccttctctttctccgtatttat       c.*1920

          .         .         .         .         .         .       g.8438
 ttttttattcttcggaggaggtggacatttcggaagtggtggggactaagggaagaactc       c.*1980

          .         .         .         .         .         .       g.8498
 tctagttccctcagtgtgaagcctgtcgtgttctctccccttgcactggtcatcagtatt       c.*2040

          .         .         .         .         .         .       g.8558
 gtgtaaaggaacaactgatatacttgagtgtgcaagcaaagaacccatttgccatgctgc       c.*2100

          .         .         .         .         .         .       g.8618
 tatgaagactacttttagatcaacaataaaaaaaaacctacaaaaaaacctttattcttt       c.*2160

          .         .         .         .         .         .       g.8678
 aattgttgcttttacggtgatattgtgcatgcaaaccaggagcattttgtgtcttaagaa       c.*2220

          .         .         .         .         .         .       g.8738
 aaataatcttagaacagatggctgtgaaaattacacccatgcacagaacaagccacagga       c.*2280

          .         .         .         .         .         .       g.8798
 ataatagttcaggatttggtttttctctttttcttgtaaacctggagggttgatatattc       c.*2340

          .         .         .         .         .         .       g.8858
 tttccatgcagttattagaacttagttttgttccaacagttaaacttgcaatgaaaagaa       c.*2400

          .         .         .         .         .         .       g.8918
 aatgtgccatttttttcactcagaattattcatagctgtatatttgaaactgctaattac       c.*2460

          .         .         .         .         .         .       g.8978
 acacgtgtgatgtatgttggttttttagtgcaatttcttctgtagctattctttgaccaa       c.*2520

          .         .         .         .         .         .       g.9038
 actgtgggtattgttaatattaatttatatttgtctcattttgtatgtatgtgtagtgtg       c.*2580

          .         .         .         .         .         .       g.9098
 tttgtgagtatgtgtggtttataatctgacaaagtcatgaagctcagtttggctgtaatt       c.*2640

          .         .         .         .         .         .       g.9158
 taattccccttcccttatttttatttatttttgtactgtgctgattcaataaaatgcact       c.*2700

                                                                    g.9167
 gaccatcca                                                          c.*2709

 (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 5, regulatory subunit 1 (p35) 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.