Fanconi anemia, complementation group B (FANCB) - coding DNA reference sequence

(used for mutation description)

(last modified May 1, 2014)

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

The sequence was taken from NC_000023.10, covering FANCB transcript NM_001018113.1.

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

 (upstream sequence)
                                                                    g.9
 CTGGAATAG                                                          c.9
 L  E  X                                                            p.2

          .         .         .         .         .         .       g.69
 attattaaaatcccttcgaatggtgttctctgtttccaagtgaagagtgtcccatagaaa       c.*60

          .         .         .         .         .         .       g.129
 cttcccggtctttcacaaaagtacacttctggaaattctttgattatttcacatttcata       c.*120

          .         .         .         .         .         .       g.189
 tgttctaagagccacaccttcattgaattcagggcatagccgggtgatgtgatttgaaaa       c.*180

          .         .         .         .          | 02        .    g.364
 caagatttatggaatgctgcaagaagtgcaaaaagatcttccatgtgct | ctataggtttc    c.*240

          .         .         .         .         .         .       g.424
 ttctttggaaatgtcagtaggtacttcccagttgaaagatcttctagacttaaaaaaact       c.*300

          .         .         .         .         .         .       g.484
 ctgccacacacaacataacgatctttaggacagttaccactttctctctccataatttgt       c.*360

          .         .         .         .         .         .       g.544
 agcagtacagtgcaacaaaatttactgaatgttaaaagtggtgaaagagatgttacagca       c.*420

          .         .         .         .         .         .       g.604
 gtaattatctgtacacactctttcttagatgggtgttcacaaacaaagctttcctctttc       c.*480

          .         .         .         .         .         .       g.664
 ttgctatcaggggtcaacgtgaccctttttgcttccaatcctatttcacatggcatcaag       c.*540

          .         .         .         .         .         .       g.724
 tatggtgctgggaaaggatttgtactcaacttaatcaccctattttgacactttagaagc       c.*600

          .         .         .         .         .         .       g.784
 cgaaatctggagtcatgggcttgatccattaacaatgataaagtcacatcattcagggac       c.*660

  | 03       .         .         .         .         .         .    g.6062
  | agcttcaaagaagatgtagttttcactccaacaaccaagctatcatctattacacgatac    c.*720

          .         .         .         .         .         .       g.6122
 catatcttctctactagctgttctgaatcttgaaaattgtctgataacttttcatctaag       c.*780

          .         .         .         .         . | 04       .    g.8546
 atatggacagaattttcttcttcaccacaaagaggaacaagacattcctt | ctcctctgca    c.*840

          .         .         .         .         .         .       g.8606
 cttgacgtattatcatcttttccttgaactaggtttattaaagctttgtaagattttgaa       c.*900

          .         .         .         .         .          | 05    g.13360
 ataattttttccttaagcaacagatgctgccgtaattcccgaaaagaagaaaaacaaac | t    c.*960

          .         .         .         .         .         .       g.13420
 ttcagtcctgtttctagaggtggaaccaccaggtaacgattctcttgtttgtcttcaaat       c.*1020

          .         .         .   | 06     .         .         .    g.14707
 aagtcatcttcattgcaatctgatggttcact | cgaatagtttatttttccaagatccgtt    c.*1080

          .         .         .         .         .         .       g.14767
 attttaaatgaagtcaggcagtctgagttcaaggagtccttaaaaagtaggagtacttgt       c.*1140

          .         .         .         .         .         .       g.14827
 tcagttccacttccaataaagtcatctatcagtactaagctaagtttttcccatttagca       c.*1200

       | 07  .         .         .         .         .         .    g.20112
 gcaac | ctgaaagctctctttccatacagcacaagcattattggatataaaggatacaacg    c.*1260

          .         .         .         .         .         .       g.20172
 aaaaagaggtttcctccacctgaatccataagttgaactgcacaaggatctccaaatgga       c.*1320

          .         .         .         .         .         .       g.20232
 agctggcacacatttttaggagttccattctgaaatgaaatcagctgattctttcgagta       c.*1380

          .         .         .         .         .         .       g.20292
 agggcaatgagagatattcttaactggtttttgatgatctcagttgcacaaatatgtaca       c.*1440

          .         .         .         .         .         .       g.20352
 taagtcaccacactgctgtaagcaggaggaataatgtatatatcacttaatacttcttga       c.*1500

          .         .         .         .         .         .       g.20412
 ctttcaagagaatatacacaaaatttggtattccaaattgcataatctgattttgaaggc       c.*1560

          .         .         .         .         .         .       g.20472
 tcttgagtacattcttcctcagataaacaacattcctttagtcccaataaaaccatacct       c.*1620

          .         .         .         .         .         .       g.20532
 aaattttcaatctcccctgcccactgaatagaggaaaagttacctgacacactaacaact       c.*1680

          .         .         .         .         .         .       g.20592
 ttgccagtttgagaagagataaagaagaatgctttgacatgcctccataaaattaaaggg       c.*1740

          .         .         .         .         .         .       g.20652
 ccattaaggacccttaggccatccttcatctcatagcctagtttaaaactcaaacgcatt       c.*1800

          .         .         .         .         .         .       g.20712
 tcaaatttattagtactgtgaaggattagtaaaaaatattcaaaaacattattcttttta       c.*1860

          .         .         .         .         .         .       g.20772
 tttttttctatcacaatgtaagggaggttaattccagttctgaaatctgacacacagttg       c.*1920

          .         .         .         .         .         .       g.20832
 caacacatgatttttaaatgagagttttcttcctttatggtaaaaaatccagtggacttc       c.*1980

          .         .         .         .         .         .       g.20892
 tgaacaaatacttttgttcctctgtcaaataccattcttctgacatgtaatatgggtgtt       c.*2040

          .         .         .         .         .         .       g.20952
 tttgtaggctctttatctgcaaaatttcctttagacaactggaaaacaaggacttcccca       c.*2100

          .         .         .         .         .         .       g.21012
 ttataacacaagagcctttcttgttcgttagatgacattgcttgtttgctagtcattcca       c.*2160

          .         .         .         .         .         .       g.21072
 caatatcaagtctttgtgctgatctaattttcaaatgcaaattgattccagttgatgttt       c.*2220

        | 08 .         .         .         .         .         .    g.24474
 ctaaac | tggtttgttgttaggcaattaacagaaagatctgggacaataggcatcacaaag    c.*2280

          .         .         .         .         .         .       g.24534
 tagtttcagcttcatcagtaaagaagatagggtaggtaaatcaaaggtctggcttgtact       c.*2340

         | 09.         .         .         .         .         .    g.28536
 tatgaaa | ctcaacgcagcggcaacataccggaggccccacgtcgatacggtatccatctg    c.*2400

          .         .     | 10   .         .         .         .                                       g.28596
 ctccaaacctcccgccagcgcgct | a                                       c.*2425

 (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 Fanconi anemia, complementation group B 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.