adaptor-related protein complex 3, beta 1 subunit (AP3B1) - 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 AP3B1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000005.9, covering AP3B1 transcript NM_003664.3.

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

 (upstream sequence)
          .         .         .         .         .         .       g.60
 CTGTGTATATTATCCTGGCCAGAAGGGACTGCACCTACATTGGCTACATTTACAACCTTC       c.60
 L  C  I  L  S  W  P  E  G  T  A  P  T  L  A  T  F  T  T  F         p.20

                                                                    g.63
 TGA                                                                c.63
 X                                                                  p.20

          .         .         .         .         .         .       g.123
 aagatcacagagggagtgaaattctgtggtgcagcaatgattacagcagaagtttcattc       c.*60

          .       | 02 .         .         .         .         .    g.5326
 attcctgttagcactc | cttgctctttcttaaaatctttctctgacatggccacaggtaaa    c.*120

          .         .         .         .         .     | 03   .    g.18957
 agcagttctccaacaggtggctgaatattaacattgaagcaatcatccttggta | cacaac    c.*180

          .         .         .         .         .         .       g.19017
 tggaaactggcagtctgagtagaatcacaaaagtcaatacccattgaaactgtaatggat       c.*240

          .          | 04        .         .         .         .    g.23674
 ccctcaggctcaagagagt | ctattggattaaaaacatgcattttcatgcctataggaagt    c.*300

          .         .         .         .         .         .       g.23734
 tttttttcccctatgtggatattttctatctttcgatcagtagtgttattcagtgttatt       c.*360

          .         .         .         .         .         .       g.23794
 tgtatagagaccatcttatcaccaaaaatgcaaggctgtcttggaaagaaataatgggca       c.*420

          .         .         .         .         .         .       g.23854
 gctagtccttttccactcattcgatgaagcagcacgtgagttttcgttggtacaaatgca       c.*480

          .  | 05      .         .         .         .         .    g.74032
 ggagtactgac | actgatgactgaagaggaagttgacaagtgtaaaccttcaagatcagcc    c.*540

          .         .         .         .         .         | 06    g.85545
 atcaaacttggagaaagagctggtgtgggaagtgcaactggagtggatactgggttaa | aa    c.*600

          .         .         .         .         .         .       g.85605
 tcatccagatctagaagtgaaacatctttggtaagaggagttctatcttgctttgttttc       c.*660

          .  | 07      .         .         .         .         .    g.94846
 ttttctttctc | cttagtgactcttctggattcagattcactttcaggttctgactctgat    c.*720

          .         .         .         .         .         .       g.94906
 tcagaatcggaagaactgtcttctattgaactagattcgtcatttgaagaatctgaagtt       c.*780

          .         .         .          | 08        .         .    g.98363
 ttagatttttcattttccttctccccatcttcagaatca | ctttttcctttggcttttgag    c.*840

          .         .         .         .         .         .       g.98423
 ttcctcttggctgttcttttgttttctaggcctgactcccgtccactctcactgtcctgc       c.*900

          .         .         .         .         .         .       g.98483
 tcactggaggagtcctcactgctgtcctcattgctgtctccttcctccccactttcgcct       c.*960

          .         .         .  | 09      .         .         .    g.100745
 tgttctccactttcacttccagattcactct | cactgtcactgctactatcagaagagtcc    c.*1020

          .         .         .         .         .         .       g.100805
 tcctcttcctcagattcagaataaaacttcttagcagaattctcttgctttgcttttcct       c.*1080

          .         . | 10       .         .         .         .    g.112660
 gctggggtccattcttttgc | caactctattacttctacatttcgaactgatgggtcgggc    c.*1140

          .         .         .         .         .         .       g.112720
 gccacctctggccaattagataattccaggtacccagtagctttaatgttgagagtatga       c.*1200

          .         .         .  | 11      .         .         .    g.113740
 gataaggtgccaagctggaaatgatctctat | ctttaaaaggagactcaagcagtggtgca    c.*1260

          .         .         .         .         .         .       g.113800
 ggcttttgtgctaggaatatttttttggcatatttacttaaagctccactctttacattc       c.*1320

          .         .         .         .         .         .       g.113860
 ggaacaataagctgcctaataaatcttgtacggtctctgatgtcgtagttttgatcatac       c.*1380

          .         .         .         | 12         .         .    g.125755
 ttgccgagatttaatatgtactgggtaagcaattttgt | ctgtttggagttggttaaatac    c.*1440

          .         .         .         .         .         .       g.125815
 aattttgctcccagatttaatatctgcagttttaccagatcatcttcactagtgaagctt       c.*1500

          .         .         .         .         .         .       g.125875
 ttagccatcttcctcaaaacatcaggggcaattttaggaactcgttcacagttttctcca       c.*1560

          .         .         .      | 13  .         .         .    g.140873
 attagccaaagaatacttgctctagcaacaggaac | agtgatactgtccaggagtttggcc    c.*1620

          .         .         .         .         .         .       g.140933
 atatgtttaataatttcaccatgttgtgcaggttgcatttgcagtaatttctttataaca       c.*1680

          .         .      | 14  .         .         .         .    g.147444
 accacactttcagcaacaactattt | catccctgttggacagcagacagaccaagccattg    c.*1740

          .         .         .         .         .         .       g.147504
 aggcacgtgtcagtgacttccaagatgttggttgcacatctgcctatagtctgaatagtg       c.*1800

          .         .         .         | 15         .         .    g.150222
 gctgctgcaaattgtttatcctggcttttcacataggt | ctgaaattctcgaagaagagtt    c.*1860

          .         .         .         .  | 16      .         .    g.160235
 gatatgttggcttcatttgccaagtttgtcaaaatttcaag | cttcagtgtcttgatcata    c.*1920

          .         .         .         .         .    | 17    .    g.160381
 gttggatcagttgacctaacatagaaactcttcagataaggttcaaacatccc | ctttctt    c.*1980

          .         .         .         .         | 18         .    g.161941
 tgaattgacatagttgctatattttgtaggacaatatactgcacctcc | ctattgctacga    c.*2040

          .         .         .         .         .         .       g.162001
 agtaaacgcactagtgatttagaaattatgccagcttcagattttggtgatatgtgccaa       c.*2100

          .         .       | 19 .         .         .         .    g.166131
 tacagctgagcaactgccataaccac | cgcagcattcctgctctgaagcaaaggctttgta    c.*2160

          .         .         .         .         .         .       g.166191
 tttctaattaagagtctatgatctggatccatagtatacggcttcttctttttgtcagtc       c.*2220

          .         .         .         .         .         .       g.166251
 ttttccttctgatcatcatcagattcgtagaaattctttccattgtcttctaattcatca       c.*2280

    | 20     .         .         .         .         .         .    g.200703
 cc | ctctttccaagggctgacaaactgtgtccgagcatatcgagttagcatgtggattatg    c.*2340

          .         .         .         .         .         .       g.200763
 acaacctgcccccactcttcaacatccactagtaagttacatagcttgcggtaattttta       c.*2400

          .         .         .         .         .         .       g.200823
 tgaatcagatctattctgtccgggcatacttcttcaaaagccatcacaacactgccagct       c.*2460

       | 21  .         .         .         .         .         .    g.210187
 accaa | tgtgcttttatctttcagaagtttttcaattacttcaattaacatttccttctgc    c.*2520

          .   | 22     .         .         .         .         .    g.212010
 tctggatcaagg | ctgtataatttttgtattgcatgggctgcattcttcctaacatatggt    c.*2580

          .         .         .         .         .         .       g.212070
 gataagtcagcagaagcttccttaatagcaagcatcatgataggtacaataattggcact       c.*2640

          .         .         .         .         .    | 23    .    g.212741
 ctaatacttgacagaactctcaaagcgcttgcacgaattagttggtttgggtc | cttcaga    c.*2700

          .         .         .         .         .         .       g.212801
 gctcgctgaaaagtgcttatggacaggagtgcaagatcctgctgttcttcagcatatcga       c.*2760

          .         .          | 24        .         .         .    g.225483
 accaggtaaacatataccaacttcttgat | ctcaatatttttactggccacattcttcaca    c.*2820

          .         .         .         .     | 25   .         .    g.252126
 acagcaggaaacagttcagatgcatttttcccttttgcaatcat | cccaacaatccgcttc    c.*2880

          .         .         .         .         .         .       g.252186
 atagcatccagtttagcagaatctttgttgctctctaacatttgctttagatcttcattc       c.*2940

  | 26       .         .         .         .         .         .    g.279102
  | ttcttcaaatcgctgctaaagaggccgaaggcccccgagggggaaatggttgaggtcgcc    c.*3000

          .         .         .         .         .         .       g.279162
 tcctgacccagctccgtcgcctcccctcctccggactgctcattgtaaggaaaactattg       c.*3060

          .         .         .         .         .         .       g.279222
 ctggacattgccgcggtgctggcgggtgcggggttggtcctgccgggggttctctccaaa       c.*3120

          .         .         .         .         .         .       g.279282
 aggttccagtccagagggcacggaacaaaactagttctcgtacggaggagcgcgcgcagg       c.*3180

          .    | 27    .         .         .         .         .                                                  g.279342
 cgcttccggactc | c                                                  c.*3194

 (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 3, beta 1 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.