regulatory factor X-associated ankyrin-containing protein (RFXANK) - 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 RFXANK gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000019.9, covering RFXANK transcript NM_003721.3.

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

 (upstream sequence)
                                         .         .                g.1025
                                    ccggacgccgcacggctcctgttcc       c.-481

 .         .         .         .         .         .                g.1085
 ggtgtcagagggcccgccctccccgctcctcagtctttgcggacaagaaaggggctgtgt       c.-421

 .         .         .         .         .         .                g.1145
 gagacgcagggaaggaggcacacccgggggtggcgcagtgaggagggggcgcgacggcca       c.-361

 .         .         .         .         .         .                g.1205
 ggaggctggtggagcgacacccaggcaggagagggggaagaactctctccctttctgaac       c.-301

 .         .         .         .         .         .                g.1265
 ccccttttccttgagagacgagttgggggagtcctccacgcattacccactcgggccgca       c.-241

 .         .         .         .         .         .                g.1325
 aaaactcccttctttagccctctgcccccgcccttgcttataagcctttgagaccgcaga       c.-181

 .         .         .         . | 02       .         .             g.1790
 agggaccttgttgtggaacgggacggccaag | aggaagccagatcgctgagggtccggtct    c.-121

 .         .         .         .         .         .                g.1850
 ccagtttgcctcctgctatatccattggaagagaaaagtttgtgacttgggcccccaagt       c.-61

 .         .         .         .         .         .  | 03          g.2748
 tttgagagaactgggctttcggcgcggggggacagaggaggctcgtggggag | ctttcccc    c.-1

          .         .         .         .         .         .       g.2808
 ATGGAGCTTACCCAGCCTGCAGAAGACCTCATCCAGACCCAGCAGACCCCTGCCTCAGAA       c.60
 M  E  L  T  Q  P  A  E  D  L  I  Q  T  Q  Q  T  P  A  S  E         p.20

          .         .         .         .         .         .       g.2868
 CTTGGGGACCCTGAAGACCCCGGAGAGGAGGCTGCAGATGGCTCAGACACTGTGGTCCTC       c.120
 L  G  D  P  E  D  P  G  E  E  A  A  D  G  S  D  T  V  V  L         p.40

          .         .         .         .         .         .       g.2928
 AGTCTCTTTCCCTGCACCCCTGAGCCTGTGAATCCTGAACCGGATGCCAGTGTTTCCTCT       c.180
 S  L  F  P  C  T  P  E  P  V  N  P  E  P  D  A  S  V  S  S         p.60

         | 04.         .         .         .         .         .    g.5817
 CCACAGG | CAGGCAGCTCCCTGAAGCACTCCACCACTCTCACCAACCGGCAGCGAGGGAAC    c.240
 P  Q  A |   G  S  S  L  K  H  S  T  T  L  T  N  R  Q  R  G  N      p.80

          .         .         .  | 05      .         .         .    g.6016
 GAGGTGTCAGCTCTGCCGGCCACCCTAGACT | CCCTGTCCATCCACCAGCTCGCAGCACAG    c.300
 E  V  S  A  L  P  A  T  L  D  S |   L  S  I  H  Q  L  A  A  Q      p.100

          .         .         .        | 06.         .         .    g.6345
 GGGGAGCTGGACCAGCTGAAGGAGCATTTGCGGAAAG | GTGACAACCTCGTCAACAAGCCA    c.360
 G  E  L  D  Q  L  K  E  H  L  R  K  G |   D  N  L  V  N  K  P      p.120

          .         .         .         .         .         .       g.6405
 GACGAGCGCGGCTTCACCCCCCTCATCTGGGCCTCCGCCTTTGGAGAGATTGAGACCGTT       c.420
 D  E  R  G  F  T  P  L  I  W  A  S  A  F  G  E  I  E  T  V         p.140

          .         | 07         .         .         .         .    g.6950
 CGCTTCCTGCTGGAGTGG | GGTGCCGACCCCCACATCCTGGCAAAAGAGCGAGAGAGCGCC    c.480
 R  F  L  L  E  W   | G  A  D  P  H  I  L  A  K  E  R  E  S  A      p.160

          .         .         .         .         .         .       g.7010
 CTGTCGCTGGCCAGCACAGGCGGCTACACAGACATTGTGGGGCTGCTGCTGGAGCGTGAC       c.540
 L  S  L  A  S  T  G  G  Y  T  D  I  V  G  L  L  L  E  R  D         p.180

          .         .     | 08   .         .         .         .    g.7494
 GTGGACATCAACATCTATGATTGG | AATGGAGGGACGCCACTGCTGTACGCTGTGCGCGGG    c.600
 V  D  I  N  I  Y  D  W   | N  G  G  T  P  L  L  Y  A  V  R  G      p.200

          .         .         .  | 09      .         .         .    g.7984
 AACCACGTGAAATGCGTTGAGGCCTTGCTGG | CCCGAGGCGCTGACCTCACCACCGAAGCC    c.660
 N  H  V  K  C  V  E  A  L  L  A |   R  G  A  D  L  T  T  E  A      p.220

          .         .         .         .         .   | 10     .    g.10458
 GACTCTGGCTACACCCCGATGGACCTTGCCGTGGCCCTGGGATACCGGAAAG | TGCAACAG    c.720
 D  S  G  Y  T  P  M  D  L  A  V  A  L  G  Y  R  K  V |   Q  Q      p.240

          .         .         .         .         .         .       g.10518
 GTGATCGAGAACCACATCCTCAAGCTCTTCCAGAGCAACCTGGTGCCCGCTGACCCTGAG       c.780
 V  I  E  N  H  I  L  K  L  F  Q  S  N  L  V  P  A  D  P  E         p.260

                                                                    g.10521
 TGA                                                                c.783
 X                                                                  p.260

          .         .         .         .         .         .       g.10581
 aggccgcctgccggggactcagacactcagggaacaaaatggtcagccagagctggggaa       c.*60

          .         .         .         .         .         .       g.10641
 acccagaactgacttcaaaggcagcttctggacaggtggtgggaggggacccttcccaag       c.*120

          .         .         .                                     g.10671
 aggaaccaataaaccttctgtgcagaatga                                     c.*150

 (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 Regulatory factor X-associated ankyrin-containing protein 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.