Wiskott-Aldrich syndrome (WAS) - coding DNA reference sequence

(used for variant description)

(last modified December 1, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_000377.2 in the WAS gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007877.1, covering WAS transcript NM_000377.2.

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

 (upstream sequence)
           .         .         .         .         .                g.5057
    tcctcttcttaccctgcacccagagcctcgccagagaagacaagggcagaaagcacc       c.-1

          .         .         .         .         .         .       g.5117
 ATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAG       c.60
 M  S  G  G  P  M  G  G  R  P  G  G  R  G  A  P  A  V  Q  Q         p.20

          .         .         .         .         .         .       g.5177
 AACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGA       c.120
 N  I  P  S  T  L  L  Q  D  H  E  N  Q  R  L  F  E  M  L  G         p.40

          .   | 02     .         .         .         .         .    g.5534
 CGAAAATGCTTG | ACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGA    c.180
 R  K  C  L   | T  L  A  T  A  V  V  Q  L  Y  L  A  L  P  P  G      p.60

          .         .         .         .         .         .       g.5594
 GCTGAGCACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAG       c.240
 A  E  H  W  T  K  E  H  C  G  A  V  C  F  V  K  D  N  P  Q         p.80

          .         .         .    | 03    .         .         .    g.6777
 AAGTCCTACTTCATCCGCCTTTACGGCCTTCAG | GCTGGTCGGCTGCTCTGGGAACAGGAG    c.300
 K  S  Y  F  I  R  L  Y  G  L  Q   | A  G  R  L  L  W  E  Q  E      p.100

          .         .         .         .         .         .       g.6837
 CTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGAT       c.360
 L  Y  S  Q  L  V  Y  S  T  P  T  P  F  F  H  T  F  A  G  D         p.120

  | 04       .         .         .         .         .         .    g.6997
  | GACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTC    c.420
  | D  C  Q  A  G  L  N  F  A  D  E  D  E  A  Q  A  F  R  A  L      p.140

          .         .         .         .    | 05    .         .    g.7166
 GTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAG | ACAGACGCCAGCTACCC    c.480
 V  Q  E  K  I  Q  K  R  N  Q  R  Q  S  G  D |   R  R  Q  L  P      p.160

          .         .      | 06  .         .         .         .    g.7319
 CCACCACCAACACCAGCCAATGAAG | AGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCAT    c.540
 P  P  P  T  P  A  N  E  E |   R  R  G  G  L  P  P  L  P  L  H      p.180

          .          | 07        .         .         .         .    g.8025
 CCAGGTGGAGACCAAGGAG | GCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTG    c.600
 P  G  G  D  Q  G  G |   P  P  V  G  P  L  S  L  G  L  A  T  V      p.200

          .         .         .         .         .         .       g.8085
 GACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCT       c.660
 D  I  Q  N  P  D  I  T  S  S  R  Y  R  G  L  P  A  P  G  P         p.220

          .         .         .         .         .         .       g.8145
 AGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCA       c.720
 S  P  A  D  K  K  R  S  G  K  K  K  I  S  K  A  D  I  G  A         p.240

          .     | 08   .         .         .         .        | 09. g.9506
 CCCAGTGGATTCAA | GCATGTCAGCCACGTGGGGTGGGACCCCCAGAATGGATTTGAC | GTG c.780
 P  S  G  F  K  |  H  V  S  H  V  G  W  D  P  Q  N  G  F  D   | V   p.260

          .         .         .         .         .         .       g.9566
 AACAACCTCGACCCAGATCTGCGGAGTCTGTTCTCCAGGGCAGGAATCAGCGAGGCCCAG       c.840
 N  N  L  D  P  D  L  R  S  L  F  S  R  A  G  I  S  E  A  Q         p.280

          .         .         .         .         .         .       g.9626
 CTCACCGACGCCGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTGGGCTG       c.900
 L  T  D  A  E  T  S  K  L  I  Y  D  F  I  E  D  Q  G  G  L         p.300

          .         .         .  | 10      .         .         .    g.9892
 GAGGCTGTGCGGCAGGAGATGAGGCGCCAGG | AGCCACTTCCGCCGCCCCCACCGCCATCT    c.960
 E  A  V  R  Q  E  M  R  R  Q  E |   P  L  P  P  P  P  P  P  S      p.320

          .         .         .         .         .         .       g.9952
 CGAGGAGGGAACCAGCTCCCCCGGCCCCCTATTGTGGGGGGTAACAAGGGTCGTTCTGGT       c.1020
 R  G  G  N  Q  L  P  R  P  P  I  V  G  G  N  K  G  R  S  G         p.340

          .         .         .         .         .         .       g.10012
 CCACTGCCCCCTGTACCTTTGGGGATTGCCCCACCCCCACCAACACCCCGGGGACCCCCA       c.1080
 P  L  P  P  V  P  L  G  I  A  P  P  P  P  T  P  R  G  P  P         p.360

          .         .         .         .         .         .       g.10072
 CCCCCAGGCCGAGGGGGCCCTCCACCACCACCCCCTCCAGCTACTGGACGTTCTGGACCA       c.1140
 P  P  G  R  G  G  P  P  P  P  P  P  P  A  T  G  R  S  G  P         p.380

          .         .         .         .         .         .       g.10132
 CTGCCCCCTCCACCCCCTGGAGCTGGTGGGCCACCCATGCCACCACCACCGCCACCACCG       c.1200
 L  P  P  P  P  P  G  A  G  G  P  P  M  P  P  P  P  P  P  P         p.400

          .         .         .         .         .         .       g.10192
 CCACCGCCGCCCAGCTCCGGGAATGGACCAGCCCCTCCCCCACTCCCTCCTGCTCTGGTG       c.1260
 P  P  P  P  S  S  G  N  G  P  A  P  P  P  L  P  P  A  L  V         p.420

          .         .         .         .         .         .       g.10252
 CCTGCCGGGGGCCTGGCCCCTGGTGGGGGTCGGGGAGCGCTTTTGGATCAAATCCGGCAG       c.1320
 P  A  G  G  L  A  P  G  G  G  R  G  A  L  L  D  Q  I  R  Q         p.440

          .         | 11         .         .         .         .    g.10565
 GGAATTCAGCTGAACAAG | ACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCT    c.1380
 G  I  Q  L  N  K   | T  P  G  A  P  E  S  S  A  L  Q  P  P  P      p.460

          .         .         .         .         .         .       g.10625
 CAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCC       c.1440
 Q  S  S  E  G  L  V  G  A  L  M  H  V  M  Q  K  R  S  R  A         p.480

          .    | 12    .         .         .         .         .    g.12359
 ATCCACTCCTCCG | ACGAAGGGGAGGACCAGGCTGGCGATGAAGATGAAGATGATGAATGG    c.1500
 I  H  S  S  D |   E  G  E  D  Q  A  G  D  E  D  E  D  D  E  W      p.500

                                                                    g.12368
 GATGACTGA                                                          c.1509
 D  D  X                                                            p.502

          .         .         .         .         .         .       g.12428
 gtggctgagttacttgctgccctgtgctcctccccgcaggacatggctccccctccacct       c.*60

          .         .         .         .         .         .       g.12488
 gctctgtgcccaccctccactctcctcttccaggcccccaaccccccatttcttccccac       c.*120

          .         .         .         .         .         .       g.12548
 caacccctccaatgctgttatccctgcctggtcctcacactcacccaacaatcccaaggc       c.*180

          .         .         .         .         .         .       g.12608
 cctttttatacaaaaattctcagttctcttcactcaaggatttttaaagaaaaataaaag       c.*240

          .         .                                               g.12633
 aattgtctttctgtctctctataaa                                          c.*265

 (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 Wiskott-Aldrich syndrome 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.