RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1) - 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 RBCK1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000020.10, covering RBCK1 transcript NM_031229.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.1046
                            agctccttcccgcggctctgcgatgcggcccgc       c.-661

 .         .         .         .         .         .                g.1106
 agggtgacccgggcgggagtccggggacccgcgatcagccccggaggacggggtggggtc       c.-601

 .         .         .         .         .         .                g.1166
 gccccaaacaggagcgccgggaccgctgggaccccgcactcggcgtccgccgccgccggg       c.-541

 .         .         .         .         .         .                g.1226
 tagccgggcagtggaggtcccggatgaggcgacaatttttccggccccccctcccagtcc       c.-481

 .         .         .         .         .         .                g.1286
 cgccccacttccggggccgccactttcactttctcttccgccgaagccgctccccttgcg       c.-421

 .         .         .         .         .         .                g.1346
 aagaactggggcctcccgggaggagagagggctttgccttgaaacccgggacgccagggg       c.-361

 .         .         .         .         .         .                g.1406
 cgctcccgcaagtgggggtcctccgggacttggaacgccccggctgggtggtgtccgggc       c.-301

 .         .         .         .         .         .                g.1466
 gtcctttccccgcttcttcccacctcggctggtcccgtttcctcctgcgcccagtgcgga       c.-241

 .         .         .         .         .         .                g.1526
 cctgtctcggcgcccgctgccctctcaccgccccacgcaggatcccggcctggtcaccgg       c.-181

 .         .         .         .         .         .                g.1586
 gcagtgtgatgcttcccgactgccgcggggacagcgaggcacacacagggcttgggccgc       c.-121

 .         .         .         .         .         .                g.1646
 gccggaggccacacggcctggctgagttgctcctggtctcccgcctctcccaggcgaccc       c.-61

 .         .         .         .         .         .                g.1706
 ggaggtagcatttcccaggaggcacggtcccccccagggggatgggcacagccacgccag       c.-1

          .         .   | 02     .         .         .         .    g.2867
 ATGGACGAGAAGACCAAGAAAG | CAGAGGAAATGGCCCTGAGCCTCACCCGAGCAGTGGCG    c.60
 M  D  E  K  T  K  K  A |   E  E  M  A  L  S  L  T  R  A  V  A      p.20

          .         .         .         .         .         .       g.2927
 GGCGGGGATGAACAGGTGGCAATGAAGTGTGCCATCTGGCTGGCAGAGCAACGGGTGCCC       c.120
 G  G  D  E  Q  V  A  M  K  C  A  I  W  L  A  E  Q  R  V  P         p.40

          .         .         .         .        | 03.         .    g.10487
 CTGAGTGTGCAACTGAAGCCTGAGGTCTCCCCAACGCAGGACATCAG | GCTGTGGGTGAGC    c.180
 L  S  V  Q  L  K  P  E  V  S  P  T  Q  D  I  R  |  L  W  V  S      p.60

          .         .         .         .         .         .       g.10547
 GTGGAGGATGCTCAGATGCACACCGTCACCATCTGGCTCACAGTGCGCCCTGATATGACA       c.240
 V  E  D  A  Q  M  H  T  V  T  I  W  L  T  V  R  P  D  M  T         p.80

          .         .  | 04      .         .         .         .    g.10719
 GTGGCGTCTCTCAAGGACATG | GTTTTTCTGGACTATGGCTTCCCACCAGTCTTGCAGCAG    c.300
 V  A  S  L  K  D  M   | V  F  L  D  Y  G  F  P  P  V  L  Q  Q      p.100

          .         .         .         .         .         .       g.10779
 TGGGTGATTGGGCAGCGGCTGGCACGAGACCAGGAGACCCTGCACTCCCATGGGGTGCGG       c.360
 W  V  I  G  Q  R  L  A  R  D  Q  E  T  L  H  S  H  G  V  R         p.120

          .         .         .         .         .         .       g.10839
 CAGAATGGGGACAGTGCCTACCTCTATCTGCTGTCAGCCCGCAACACCTCCCTCAACCCT       c.420
 Q  N  G  D  S  A  Y  L  Y  L  L  S  A  R  N  T  S  L  N  P         p.140

          .         .         .         . | 05       .         .    g.12315
 CAGGAGCTGCAGCGGGAGCGGCAGCTGCGGATGCTGGAAG | ATCTGGGCTTCAAGGACCTC    c.480
 Q  E  L  Q  R  E  R  Q  L  R  M  L  E  D |   L  G  F  K  D  L      p.160

          .         .         .         .         .         .       g.12375
 ACGCTGCAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAA       c.540
 T  L  Q  P  R  G  P  L  E  P  G  P  P  K  P  G  V  P  Q  E         p.180

          .         .         .         .   | 06     .         .    g.12524
 CCCGGACGGGGGCAGCCAGATGCAGTGCCTGAGCCCCCACCG | GTGGGCTGGCAGTGCCCC    c.600
 P  G  R  G  Q  P  D  A  V  P  E  P  P  P   | V  G  W  Q  C  P      p.200

          .         .         .         .         .         .       g.12584
 GGGTGCACCTTCATCAACAAGCCCACGCGGCCTGGCTGTGAGATGTGCTGCCGGGCGCGC       c.660
 G  C  T  F  I  N  K  P  T  R  P  G  C  E  M  C  C  R  A  R         p.220

          .         .         .         .         .         .       g.12644
 CCCGAGGCCTACCAGGTCCCCGCCTCATACCAGCCCGACGAGGAGGAGCGAGCGCGCCTG       c.720
 P  E  A  Y  Q  V  P  A  S  Y  Q  P  D  E  E  E  R  A  R  L         p.240

          .         .         .       | 07 .         .         .    g.13843
 GCGGGCGAGGAGGAGGCGCTGCGTCAGTACCAGCAG | CGGAAGCAGCAGCAGCAGGAGGGG    c.780
 A  G  E  E  E  A  L  R  Q  Y  Q  Q   | R  K  Q  Q  Q  Q  E  G      p.260

          .         .         .         .         .         .       g.13903
 AACTACCTGCAGCACGTCCAGCTGGACCAGAGGAGCCTGGTGCTGAACACGGAGCCCGCC       c.840
 N  Y  L  Q  H  V  Q  L  D  Q  R  S  L  V  L  N  T  E  P  A         p.280

          .         .         .         .         .         .       g.13963
 GAGTGCCCCGTGTGCTACTCGGTGCTGGCGCCCGGCGAGGCCGTGGTGCTGCGTGAGTGT       c.900
 E  C  P  V  C  Y  S  V  L  A  P  G  E  A  V  V  L  R  E  C         p.300

          .        | 08.         .         .         .         .    g.15118
 CTGCACACCTTCTGCAG | GGAGTGCCTGCAGGGCACCATCCGCAACAGCCAGGAGGCGGAG    c.960
 L  H  T  F  C  R  |  E  C  L  Q  G  T  I  R  N  S  Q  E  A  E      p.320

          .         .         .         .         .         .       g.15178
 GTCTCCTGCCCCTTCATTGACAACACCTACTCGTGCTCGGGCAAGCTGCTGGAGAGGGAG       c.1020
 V  S  C  P  F  I  D  N  T  Y  S  C  S  G  K  L  L  E  R  E         p.340

           | 09        .         .         .         .         .    g.20312
 ATCAAGGCG | CTCCTGACCCCTGAGGATTACCAGCGATTTCTAGACCTGGGCATCTCCATT    c.1080
 I  K  A   | L  L  T  P  E  D  Y  Q  R  F  L  D  L  G  I  S  I      p.360

          .         .         .         .         .         .       g.20372
 GCTGAAAACCGCAGTGCCTTCAGCTACCATTGCAAGACCCCAGATTGCAAGGGATGGTGC       c.1140
 A  E  N  R  S  A  F  S  Y  H  C  K  T  P  D  C  K  G  W  C         p.380

          .         .         .         .         .         .       g.20432
 TTCTTTGAGGATGATGTCAATGAGTTCACCTGCCCTGTGTGTTTCCACGTCAACTGCCTG       c.1200
 F  F  E  D  D  V  N  E  F  T  C  P  V  C  F  H  V  N  C  L         p.400

           | 10        .         .         .         .         .    g.21490
 CTCTGCAAG | GCCATCCATGAGCAGATGAACTGCAAGGAGTATCAGGAGGACCTGGCCCTG    c.1260
 L  C  K   | A  I  H  E  Q  M  N  C  K  E  Y  Q  E  D  L  A  L      p.420

          .         .         .         .         | 11         .    g.21911
 CGGGCTCAGAACGATGTGGCTGCCCGGCAGACGACAGAGATGCTGAAG | GTGATGCTGCAG    c.1320
 R  A  Q  N  D  V  A  A  R  Q  T  T  E  M  L  K   | V  M  L  Q      p.440

          .         .         .         .         .         .       g.21971
 CAGGGCGAGGCCATGCGCTGCCCCCAGTGCCAGATCGTGGTACAGAAGAAGGACGGCTGC       c.1380
 Q  G  E  A  M  R  C  P  Q  C  Q  I  V  V  Q  K  K  D  G  C         p.460

          .         .         .         .         .         .       g.22031
 GACTGGATCCGCTGCACCGTCTGCCACACCGAGATCTGCTGGGTCACCAAGGGCCCACGC       c.1440
 D  W  I  R  C  T  V  C  H  T  E  I  C  W  V  T  K  G  P  R         p.480

          .   | 12     .         .         .         .         .    g.23346
 TGGGGCCCTGGG | GGCCCAGGAGACACCAGCGGGGGCTGCCGCTGCAGGGTAAATGGGATT    c.1500
 W  G  P  G   | G  P  G  D  T  S  G  G  C  R  C  R  V  N  G  I      p.500

          .         .         .                                     g.23379
 CCTTGCCACCCAAGCTGTCAGAACTGCCACTGA                                  c.1533
 P  C  H  P  S  C  Q  N  C  H  X                                    p.510

          .         .         .         .         .         .       g.23439
 gctaaagatggtggggccacatgctgacccagccccacatccacattctgttagaatgta       c.*60

          .         .         .         .         .         .       g.23499
 gctcagggagcttcgtggacggccttgcttgctgtagcgttgtaggggccctgcctgcac       c.*120

          .         .         .         .         .         .       g.23559
 tgcggttgtccacggtcacatctgccccagtgcctttgtccttcccttggggcttgccgg       c.*180

          .         .         .         .         .         .       g.23619
 ccagacttctctcccctgcggctcccacctctgcctgaccccagccttaaacatagcccc       c.*240

          .         .         .         .         .         .       g.23679
 tggccagaggccttgctgggtggagcctctgtgtgactccatactcctcccaccacaaca       c.*300

          .         .         .         .         .         .       g.23739
 ctcatctgtcaaacaccaagcactctcagcctccccgccttcagctgtcagctttctggg       c.*360

          .         .         .         .         .         .       g.23799
 gctaacttctctgcctttgtggttggaggcctgaggcctcttggaactcttgctaacctg       c.*420

          .         .         .         .         .         .       g.23859
 ttcagagccaggaaggagactgcacagttttgaaagcacagcccgtcaggtccggctctg       c.*480

          .         .         .         .         .                 g.23915
 cgtctccctctctgcagcctgtgtaagctattataattaaaatggttttccgggaa           c.*536

 (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 RanBP-type and C3HC4-type zinc finger containing 1 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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