SH2 domain containing 1A (SH2D1A) - coding DNA reference sequence

(used for variant description)

(last modified September 9, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_002351.4 in the SH2D1A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000023.10, covering SH2D1A transcript NM_002351.4.

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

 (upstream sequence)
                                                                    g.5001
                                                            a       c.-361

 .         .         .         .         .         .                g.5061
 ttactaagcatccccgtctgagtgcaagggtgtgtgttggcagtacagccccaatcttgc       c.-301

 .         .         .         .         .         .                g.5121
 aaaatccttcttccaatgttcctcccctctctgtatgaaccctgtgttggggggcagaag       c.-241

 .         .         .         .         .         .                g.5181
 atggaagcccttggcaagctcgatcgaaccaagctactaaattgctgagctcgttttaac       c.-181

 .         .         .         .         .         .                g.5241
 tgaagtgtgagaaggaggtttaaggcaagtagacaacatcctgttgttggggtgcttctc       c.-121

 .         .         .         .         .         .                g.5301
 tcttttttgcacatctggctgaactgggagtcaggtggttgacttgtgcctggctgcagt       c.-61

 .         .         .         .         .         .                g.5361
 agcagcggcatctcccttgcacagttctcctcctcggcctgcccaagagtccaccaggcc       c.-1

          .         .         .         .         .         .       g.5421
 ATGGACGCAGTGGCTGTGTATCATGGCAAAATCAGCAGGGAAACCGGCGAGAAGCTCCTG       c.60
 M  D  A  V  A  V  Y  H  G  K  I  S  R  E  T  G  E  K  L  L         p.20

          .         .         .         .         .         .       g.5481
 CTTGCCACTGGGCTGGATGGCAGCTATTTGCTGAGGGACAGCGAGAGCGTGCCAGGCGTG       c.120
 L  A  T  G  L  D  G  S  Y  L  L  R  D  S  E  S  V  P  G  V         p.40

          .        | 02.         .         .         .         .    g.24522
 TACTGCCTATGTGTGCT | GTATCACGGTTACATTTATACATACCGAGTGTCCCAGACAGAA    c.180
 Y  C  L  C  V  L  |  Y  H  G  Y  I  Y  T  Y  R  V  S  Q  T  E      p.60

          .         .  | 03      .         .         .         .    g.28933
 ACAGGTTCTTGGAGTGCTGAG | ACAGCACCTGGGGTACATAAAAGATATTTCCGGAAAATA    c.240
 T  G  S  W  S  A  E   | T  A  P  G  V  H  K  R  Y  F  R  K  I      p.80

          .         .         .         .         .         .       g.28993
 AAAAATCTCATTTCAGCATTTCAGAAGCCAGATCAAGGCATTGTAATACCTCTGCAGTAT       c.300
 K  N  L  I  S  A  F  Q  K  P  D  Q  G  I  V  I  P  L  Q  Y         p.100

          .         .         .         .       | 04 .         .    g.30083
 CCAGTTGAGAAGAAGTCCTCAGCTAGAAGTACACAAGGTACTACAG | GGATAAGAGAAGAT    c.360
 P  V  E  K  K  S  S  A  R  S  T  Q  G  T  T  G |   I  R  E  D      p.120

          .         .                                               g.30110
 CCTGATGTCTGCCTGAAAGCCCCATGA                                        c.387
 P  D  V  C  L  K  A  P  X                                          p.128

          .         .         .         .         .         .       g.30170
 agaaaaataaaacaccttgtactttattttctataatttaaatatatgctaagtcttata       c.*60

          .         .         .         .         .         .       g.30230
 tattgtagataatacagttcggtgagctacaaatgcatttctaaagccattgtagtcctg       c.*120

          .         .         .         .         .         .       g.30290
 taatggaagcatctagcatgtcgtcaaagctgaaatggacttttgtacatagtgaggagc       c.*180

          .         .         .         .         .         .       g.30350
 tttgaaacgaggattgggaaaaagtaattccgtaggttattttcagttattatatttaca       c.*240

          .         .         .         .         .         .       g.30410
 aatgggaaacaaaaggataatgaatactttataaaggattaatgtcaattcttgccaaat       c.*300

          .         .         .         .         .         .       g.30470
 ataaataaaaataatcctcagtttttgtgaaaagctccatttttagtgaaatattatttt       c.*360

          .         .         .         .         .         .       g.30530
 atagctactaattttaaaatgtcttgcttgattgtatggtgggaagttggctggtgtccc       c.*420

          .         .         .         .         .         .       g.30590
 ttgtctttgccaagttctccactagctatggtgtcataggctcttttgggatttttgaag       c.*480

          .         .         .         .         .         .       g.30650
 ctgtatactgtgtgctaaaacaagcactaaacaaagagtgaaggatttatgtttaattct       c.*540

          .         .         .         .         .         .       g.30710
 gaaagcaaccttcttgcctagtgttctgatattggacagtaaaatccacagaccaacctg       c.*600

          .         .         .         .         .         .       g.30770
 gagttgaaaatcttataatttaaaatatgctctaaacatgtttatcgtatttgatgctac       c.*660

          .         .         .         .         .         .       g.30830
 aggatttgaaattgtattacaaatccaatgaaatgagtttttcttttcatttacctctgc       c.*720

          .         .         .         .         .         .       g.30890
 cccagttgtttctactacatggaagacctcattttgaagggaaatttcagcagctgcagc       c.*780

          .         .         .         .         .         .       g.30950
 tcatgagtaactgatttgtaacaagcctccttttaaagtaaccctacaaaaccactggaa       c.*840

          .         .         .         .         .         .       g.31010
 agtttatggttgtattattttttaaaaaaattccaagtgattgaaacctacacgagatac       c.*900

          .         .         .         .         .         .       g.31070
 agaattttatgcggcattttcttctcacatttatatttttgtgattttgtgattgattat       c.*960

          .         .         .         .         .         .       g.31130
 atgtcactttgctacagggctcacagaattcattcactcaacaaacataatagggcgctg       c.*1020

          .         .         .         .         .         .       g.31190
 agggcatagaagtaaaaacacctggtccctgctctcagttcactgtcttgttggacgaga       c.*1080

          .         .         .         .         .         .       g.31250
 aaacaataacgataaaagacagtgaaagaaaataacgataaaagacagtgaaagaaaata       c.*1140

          .         .         .         .         .         .       g.31310
 acaataaaagacaaggaaaaaataacaatgaaagttgataagtacatgataagcgaggtt       c.*1200

          .         .         .         .         .         .       g.31370
 ccccgtgtgtaggtagatctggtctttagaggcagatagataggtcagtgcaaatactct       c.*1260

          .         .         .         .         .         .       g.31430
 ggtccatgggccatatgaaaaggctaagcttcactgtaaaataataactgggaattctgg       c.*1320

          .         .         .         .         .         .       g.31490
 attgtgtatgggtgttggtgaacttggttttaattagtgaactgctgagagacagagcta       c.*1380

          .         .         .         .         .         .       g.31550
 ttctccatgtactggcaagacctgatttctgagcatttaatatggatgccgtgggagtac       c.*1440

          .         .         .         .         .         .       g.31610
 aaaagtggagtgtggcctgagtaatgcattatgggtggtttaccatttcttgaggtaaaa       c.*1500

          .         .         .         .         .         .       g.31670
 gcatcacatgaacttgtaaaggaatttaaaaatcctactttcataataagttgcataggt       c.*1560

          .         .         .         .         .         .       g.31730
 ttaataatttttaattatatggcttgagtttaaattgtaataggcgtaactaattttaac       c.*1620

          .         .         .         .         .         .       g.31790
 tctataatgtgttcattctggaataatcctaaacatatgaattatgtttgcatgttcact       c.*1680

          .         .         .         .         .         .       g.31850
 tccaagagcctttttttgaaaaaaagctttttttgaatcatcaagtctttcacatttaaa       c.*1740

          .         .                                               g.31879
 taaagtgtttgaaagctttatttacctaa                                      c.*1769

 (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 SH2 domain containing 1A 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.