xeroderma pigmentosum, complementation group A (XPA) - coding DNA reference sequence

(used for variant description)

(last modified September 4, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_000380.3 in the XPA gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011642.1, covering XPA transcript NM_000380.3.

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

 (upstream sequence)
           .         .         .         .         .                g.5057
    cactcagaaaggccgctgggtgcggggagcgcagaggcggtgcagggcggctggctc       c.-61

 .         .         .         .         .         .                g.5117
 gcctcggcgtgcagtgcgcgtgcgtggagctgggagctaggtcctcggagtgggccagag       c.-1

          .         .         .         .         .         .       g.5177
 ATGGCGGCGGCCGACGGGGCTTTGCCGGAGGCGGCGGCTTTAGAGCAACCCGCGGAGCTG       c.60
 M  A  A  A  D  G  A  L  P  E  A  A  A  L  E  Q  P  A  E  L         p.20

          .         .         .         .         .         .       g.5237
 CCTGCCTCGGTGCGGGCGAGTATCGAGCGGAAGCGGCAGCGGGCACTGATGCTGCGCCAG       c.120
 P  A  S  V  R  A  S  I  E  R  K  R  Q  R  A  L  M  L  R  Q         p.40

          .         .         .         .         .   | 02     .    g.8658
 GCCCGGCTGGCTGCCCGGCCCTACTCGGCGACGGCGGCTGCGGCTACTGGAG | GCATGGCT    c.180
 A  R  L  A  A  R  P  Y  S  A  T  A  A  A  A  T  G  G |   M  A      p.60

          .         .         .         .         .         .       g.8718
 AATGTAAAAGCAGCCCCAAAGATAATTGACACAGGAGGAGGCTTCATTTTAGAAGAGGAA       c.240
 N  V  K  A  A  P  K  I  I  D  T  G  G  G  F  I  L  E  E  E         p.80

          .         .         .         .    | 03    .         .    g.12787
 GAAGAAGAAGAACAGAAAATTGGAAAAGTTGTTCATCAACCAG | GACCTGTTATGGAATTT    c.300
 E  E  E  E  Q  K  I  G  K  V  V  H  Q  P  G |   P  V  M  E  F      p.100

          .         .         .         .         .         .       g.12847
 GATTATGTAATATGCGAAGAATGTGGGAAAGAATTTATGGATTCTTATCTTATGAACCAC       c.360
 D  Y  V  I  C  E  E  C  G  K  E  F  M  D  S  Y  L  M  N  H         p.120

          .         .          | 04        .         .         .    g.15179
 TTTGATTTGCCAACTTGTGATAACTGCAG | AGATGCTGATGATAAACACAAGCTTATAACC    c.420
 F  D  L  P  T  C  D  N  C  R  |  D  A  D  D  K  H  K  L  I  T      p.140

          .         .         .         .         .         .       g.15239
 AAAACAGAGGCAAAACAAGAATATCTTCTGAAAGACTGTGATTTAGAAAAAAGAGAGCCA       c.480
 K  T  E  A  K  Q  E  Y  L  L  K  D  C  D  L  E  K  R  E  P         p.160

          .         .         .         .         .         .       g.15299
 CCTCTTAAATTTATTGTGAAGAAGAATCCACATCATTCACAATGGGGTGATATGAAACTC       c.540
 P  L  K  F  I  V  K  K  N  P  H  H  S  Q  W  G  D  M  K  L         p.180

          .      | 05  .         .         .         .         .    g.17414
 TACTTAAAGTTACAG | ATTGTGAAGAGGTCTCTTGAAGTTTGGGGTAGTCAAGAAGCATTA    c.600
 Y  L  K  L  Q   | I  V  K  R  S  L  E  V  W  G  S  Q  E  A  L      p.200

          .         .         .         .         .         .       g.17474
 GAAGAAGCAAAGGAAGTCCGACAGGAAAACCGAGAAAAAATGAAACAGAAGAAATTTGAT       c.660
 E  E  A  K  E  V  R  Q  E  N  R  E  K  M  K  Q  K  K  F  D         p.220

          .    | 06    .         .         .         .         .    g.26869
 AAAAAAGTAAAAG | AATTGCGGCGAGCAGTAAGAAGCAGCGTGTGGAAAAGGGAGACGATT    c.720
 K  K  V  K  E |   L  R  R  A  V  R  S  S  V  W  K  R  E  T  I      p.240

          .         .         .         .         .         .       g.26929
 GTTCATCAACATGAGTATGGACCAGAAGAAAACCTAGAAGATGACATGTACCGTAAGACT       c.780
 V  H  Q  H  E  Y  G  P  E  E  N  L  E  D  D  M  Y  R  K  T         p.260

          .         .         .         .                           g.26971
 TGTACTATGTGTGGCCATGAACTGACATATGAAAAAATGTGA                         c.822
 C  T  M  C  G  H  E  L  T  Y  E  K  M  X                           p.273

          .         .         .         .         .         .       g.27031
 ttttttagttcagtgacctgttttatagaattttatatttaaataaaggaaatttagatt       c.*60

          .         .         .         .         .         .       g.27091
 ggtccttttcaaaattcaaaaaaaaaagcaacatcttcatagatgaatgaaacccttgta       c.*120

          .         .         .         .         .         .       g.27151
 taagtaatacttcagtaataattatgtatgttatggcttaaaagcaagtttcagtgaagg       c.*180

          .         .         .         .         .         .       g.27211
 tcacctggcctggttgtgtgcacaatgtcatgtctgtgattgccttcttacaacagagat       c.*240

          .         .         .         .         .         .       g.27271
 gggagctgagtgctagagtaggtgcagaagtggtaggtcagctacaaatttgaggacaag       c.*300

          .         .         .         .         .         .       g.27331
 ataccaaggcaaaccctagattggggtagagggaaaagggttcaacaaaggctgaactgg       c.*360

          .         .         .         .         .         .       g.27391
 attcttaaccaagaaacaaataatagcaatggtggtgcaccactgtaccccaggttctag       c.*420

          .         .         .         .         .         .       g.27451
 tcatgtgttttttaggacgatttctgtctccacgatggtggaaacagtggggaactactg       c.*480

          .         .         .         .         .                 g.27501
 ctggaaaaagccctaatagcagaaataaacattgagttgtacgagtctga                 c.*530

 (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 Xeroderma pigmentosum, complementation group A 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.