adaptor-related protein complex 1, sigma 2 subunit (AP1S2) - coding DNA reference sequence

(used for variant description)

(last modified June 6, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_003916.3 in the AP1S2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000023.10, covering AP1S2 transcript NM_003916.3.

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

 (upstream sequence)
           .         .         .         .         .                g.5050
           agcggttacccgcgctgcctccggtgccgctggcgaccgctgagccgctt       c.-241

 .         .         .         .         .         .                g.5110
 cccgcgcgtcgcctagcccgcccctcagctcgccgcagccccggctcctccctcgtccgg       c.-181

 .         .         .         .         .         .                g.5170
 cccccggggcggggtctgtcagcttgccctcccctctccgcctaagcctgccctatgcca       c.-121

 .         .         .         .         .         .                g.5230
 gccgggtgtcctccccacagcaccacggcttctcttcctcagcacggcgacaggggcttc       c.-61

 .         .         .         .         .         .                g.5290
 cccttcgccgccgccgccgccgccggccaagctccgccgcgcccgcggcccgcggccgcc       c.-1

  | 02       .         .         .         .         .         .    g.7513
  | ATGCAGTTTATGTTGCTTTTTAGTCGTCAGGGAAAGCTTCGACTGCAAAAATGGTATGTC    c.60
  | M  Q  F  M  L  L  F  S  R  Q  G  K  L  R  L  Q  K  W  Y  V      p.20

          .         .         .         .         .         .       g.7573
 CCACTATCAGACAAAGAGAAGAAAAAGATCACAAGAGAACTTGTTCAGACCGTTTTAGCA       c.120
 P  L  S  D  K  E  K  K  K  I  T  R  E  L  V  Q  T  V  L  A         p.40

          .         .         .         .         .          | 03    g.13967
 CGGAAACCTAAAATGTGCAGCTTCCTTGAGTGGCGAGATCTGAAGATTGTTTACAAAAG | A    c.180
 R  K  P  K  M  C  S  F  L  E  W  R  D  L  K  I  V  Y  K  R  |      p.60

          .         .         .         .         .         .       g.14027
 TATGCTAGTCTGTATTTTTGCTGTGCTATTGAGGATCAGGACAATGAACTAATTACCCTG       c.240
 Y  A  S  L  Y  F  C  C  A  I  E  D  Q  D  N  E  L  I  T  L         p.80

          .         .         .         .         | 04         .    g.14473
 GAAATAATTCATCGTTATGTGGAATTACTTGACAAGTATTTCGGCAGT | GTCTGTGAACTA    c.300
 E  I  I  H  R  Y  V  E  L  L  D  K  Y  F  G  S   | V  C  E  L      p.100

          .         .         .         .         .         .       g.14533
 GATATCATCTTTAATTTTGAGAAGGCTTATTTTATTTTGGATGAGTTTCTTTTGGGAGGG       c.360
 D  I  I  F  N  F  E  K  A  Y  F  I  L  D  E  F  L  L  G  G         p.120

          .         .         .         .         .         .       g.14593
 GAAGTTCAGGAAACATCCAAGAAAAATGTCCTTAAAGCAATTGAGCAGGCTGATCTACTG       c.420
 E  V  Q  E  T  S  K  K  N  V  L  K  A  I  E  Q  A  D  L  L         p.140

        | 05 .         .         .         .         .              g.32659
 CAGGAG | GAAGCTGAAACCCCACGTAGTGTTCTTGAAGAAATTGGACTGACATAA          c.474
 Q  E   | E  A  E  T  P  R  S  V  L  E  E  I  G  L  T  X            p.157

          .         .         .         .         .         .       g.32719
 ctctcctcccttgttgatgacttcttgtggcatttcacacactgtagatggtcactccct       c.*60

          .         .         .         .         .         .       g.32779
 tcatgtccatgttagctcatggtgtaagatgatgtcttgtcagtattactgttttgctaa       c.*120

          .         .         .         .         .         .       g.32839
 gccgcttcattcatgcctacacaatttttttttaaaagggaactttagttaattaagtga       c.*180

          .         .         .         .         .         .       g.32899
 taagggacttaaatatgaattagaatggtgcagaaagagataccttttctggatatttta       c.*240

          .         .         .         .         .         .       g.32959
 aagtttaaaggtcagtttctcttaatctgattatgtgcacatatgaaaatggcacatcat       c.*300

          .         .         .         .         .         .       g.33019
 atacatgtaaaatcaggcagtatacatttattaattactgtatttgacaaaggaaactct       c.*360

          .         .         .         .         .         .       g.33079
 taaattataatgtgaaacctggttttatgaaaccaaagactagtgcagcatttcagcata       c.*420

          .         .         .         .         .         .       g.33139
 tgtaaaaaaaaaaaaaaagggaattgacatgtcacatatcaaatgaatggaaactttgtt       c.*480

          .         .         .         .         .         .       g.33199
 gaaactttaaaaagcaaatttactccaaagacttgtattggaaattacataccttttttt       c.*540

          .         .         .         .         .         .       g.33259
 tttttttttaaaggactacagattatttttaatgactaaattggagtgatacttcttaca       c.*600

          .         .         .         .         .         .       g.33319
 ctaaaaattatttcttaggcattctgaatctgggatgagaaacaggattgtttcacaata       c.*660

          .         .         .         .         .         .       g.33379
 gtaagcacataatttttaaggccaaggcacatttgactcctgagatgaattttttgtggt       c.*720

          .         .         .         .         .         .       g.33439
 cataatcaaatacttagttgtttttgatgccccaaaataaagtgagaatggtaatttgcc       c.*780

          .         .         .         .         .         .       g.33499
 aggaattcttcataacagtatcttacaaaaaacgtgttgctctcttcacagtattatgtg       c.*840

          .         .         .         .         .         .       g.33559
 taaagtcattgtttaaagcacgaatgttccctctggggtacttgttaaagctaaatttat       c.*900

          .         .         .         .         .         .       g.33619
 tttgcttccctccacttagaagtgctgcacactttacagcagcttcctttctttccatgg       c.*960

          .         .         .         .         .         .       g.33679
 cactgcctagttaacagaagtcttataaaaatttaaaaagacacatttcttacaaaaaag       c.*1020

          .         .         .         .         .         .       g.33739
 agttgaatgaggtaaaatggcattagatggctctatattttttaaagctatgtaattgtt       c.*1080

          .         .         .         .         .         .       g.33799
 cagcgtcacttttctaagtacttatacatatctaaacatgtcttcatggtttatattttc       c.*1140

          .         .         .         .         .         .       g.33859
 acttatatatgctgggctggattaagctttgttgtgattgtgaccaacattcaggccacg       c.*1200

          .         .         .         .         .         .       g.33919
 tgagcactgtcttatcacatcgccaattagttgtaataaacgttcaacgtacaaacactg       c.*1260

          .         .         .         .         .         .       g.33979
 gagtgtgtttttatctctttccaaaagtttgtcaaactatgcagagctgctgaaggaaga       c.*1320

          .         .         .         .         .         .       g.34039
 atttctcatttttttttcagtaaaatgttgaaaattcccctccatttgaatatggtggtt       c.*1380

          .         .         .         .         .         .       g.34099
 gttataagcacacacaagatacatggtggaagatctaaggagtcttcatgtacttcatta       c.*1440

          .         .         .         .         .         .       g.34159
 aaaaataacatggattccatactgagagcctatctacacatttattttcaatcaataaat       c.*1500

          .                                                         g.34178
 gctgcttttaaaaccttga                                                c.*1519

 (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 Adaptor-related protein complex 1, sigma 2 subunit 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.