adaptor-related protein complex 4, sigma 1 subunit (AP4S1) - coding DNA reference sequence

(used for variant description)

(last modified February 14, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_001128126.2 in the AP4S1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000014.8, covering AP4S1 transcript NM_001128126.2.

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

 (upstream sequence)
                                         .         .                g.5393
                                aaggggggtaagatgcctatcctagtccc       c.-361

 .         .         .         .         .         .                g.5453
 tctcttcgggctcttcatctcaagaggaacaaacaagagcaaactcagtgttgagaggcc       c.-301

 .         .         .         .         .         .                g.5513
 ccaaaccggactctcccacagagaggtgctcggtcccaagccccggaggcccgggaaggc       c.-241

 .         .         .         .         .         .                g.5573
 cgcctccggaggagcccccgcagacgccatactaaaagccaaaatggctgccccgaggag       c.-181

 .         .         .         .         .         .                g.5633
 gcccgcaccgcgtagccagtgaaggttggggagcaagcttatgcgggaaagagggagggg       c.-121

 .         .         .         .         .         | 02             g.46031
 gactccaggaaaagccgttgagaggaccatcacaacctgagcagcacag | gttccagttac    c.-61

 .         .         .         .         .         .                g.46091
 agccatcccttgtcataacttttgaactgtatttggaaaaatactggccaggaaagaaaa       c.-1

          .         .         .         .         .         .       g.46151
 ATGATAAAATTTTTCCTCATGGTGAATAAACAAGGGCAGACTCGACTTTCTAAGTACTAT       c.60
 M  I  K  F  F  L  M  V  N  K  Q  G  Q  T  R  L  S  K  Y  Y         p.20

          .         .         .         .         .         .       g.46211
 GAACATGTGGATATTAATAAGCGTACACTTCTGGAAACAGAAGTCATAAAGAGCTGTCTC       c.120
 E  H  V  D  I  N  K  R  T  L  L  E  T  E  V  I  K  S  C  L         p.40

          .         | 03         .         .         .         .    g.49779
 TCTCGATCCAATGAACAA | TGCTCTTTCATTGAATATAAGGATTTTAAGCTGATATATCGG    c.180
 S  R  S  N  E  Q   | C  S  F  I  E  Y  K  D  F  K  L  I  Y  R      p.60

          .         .         .         .      | 04  .         .    g.52814
 CAGTATGCAGCTCTCTTCATTGTGGTTGGAGTTAATGACACTGAG | AACGAGATGGCTATT    c.240
 Q  Y  A  A  L  F  I  V  V  G  V  N  D  T  E   | N  E  M  A  I      p.80

          .         .         .         .         .     | 05   .    g.60473
 TATGAATTCATTCATAACTTTGTGGAAGTTTTAGATGAGTATTTCAGCCGAGTG | AGTGAA    c.300
 Y  E  F  I  H  N  F  V  E  V  L  D  E  Y  F  S  R  V   | S  E      p.100

        | 06 .         .         .         .         .         .    g.72855
 TTAGAT | ATAATGTTTAATTTGGATAAAGTACACATCATTTTGGATGAGATGGTGTTAAAT    c.360
 L  D   | I  M  F  N  L  D  K  V  H  I  I  L  D  E  M  V  L  N      p.120

          .         .         .         .         .         .       g.72915
 GGCTGCATTGTGGAAACTAACAGGGCAAGAATTCTTGCCCCTCTACTAATTCTTGATAAG       c.420
 G  C  I  V  E  T  N  R  A  R  I  L  A  P  L  L  I  L  D  K         p.140

          .                                                         g.72930
 ATGTCAGAAAGCTGA                                                    c.435
 M  S  E  S  X                                                      p.144

          .         .         .         .         .         .       g.72990
 aaggaagtctcttcgagacaatatggatttatcagaaatgcgagtaccgtggaatacatc       c.*60

          .         .         .         .         .         .       g.73050
 tcaacatgttaacccagaagaatctggaagaccacaattacaaaatggggtatccttcca       c.*120

          .         .         .         .         .         .       g.73110
 aagacattataaataggcattttccacagttcctaaaaagaaaacacaactgtactttaa       c.*180

          .         .         .         .         .         .       g.73170
 aatatgtacaaagaaaaaaatttctttaaactgagagagaagttttattttctaattgta       c.*240

          .         .         .         .         .         .       g.73230
 aacatatctgtcgcactttaaattctgttgagcacctaaggaacccttcttggtctatgc       c.*300

          .         .         .         .         .         .       g.73290
 ttcttttgcaaattgaattcaggaatagcaggatggtagtgggaagaaagtatggcagtt       c.*360

          .         .         .         .         .         .       g.73350
 ttccgtcagccaataaagttttaaaatttaaacacaaggcattttgagtaacgctgtttt       c.*420

          .         .         .         .         .         .       g.73410
 ctgaaagctatttttttttttttgagacggagtctagtctagctgtgtcacctggcacat       c.*480

          .         .         .         .         .         .       g.73470
 tctcggctcactgcaacctccacttccggggttcaagcgattctcctgcctcagcctccg       c.*540

          .         .         .         .         .         .       g.73530
 agctgggactacaggcatgcaccaccacacctggctaatttttgtatttttagtagagac       c.*600

          .         .         .         .         .         .       g.73590
 agggtttcaccatgttggccaggctgtctcaaactcctgacctcaggtgatctgcctgcc       c.*660

          .         .         .         .         .         .       g.73650
 tcagcctcccagaacgctgggattacagatgagccacagtgcctgacttctgaaggctgt       c.*720

          .         .         .         .         .         .       g.73710
 cttattcctttaaaaggcttagtaaaattaactttttaagaggtgtttttttgtttgttt       c.*780

          .         .         .         .         .         .       g.73770
 ttttgttttgttttttaagacggagtcttgctctgtcacccaagctggagtgcagtggtg       c.*840

          .         .         .         .         .         .       g.73830
 tgatctcagctcactgcaacctccacctctgggtttaagcaattctcctgcctcagcctc       c.*900

          .         .         .         .         .         .       g.73890
 ctgagtagctgcgactacaggcatgtagtccccaggagactgagctgtgattacagatgt       c.*960

          .         .         .         .         .         .       g.73950
 gagccaccatgccctgcccggttttatgtaaagcccagctaatttttgtatttttagtag       c.*1020

          .         .         .         .         .         .       g.74010
 agatagggtttcaccatgttggccaggctgttcttgaactcctgacctcaagtgatccac       c.*1080

          .         .         .         .         .         .       g.74070
 ctgcttcagcctcccaaagtgctgggattacaagcatgagccaccatgcccagccaagag       c.*1140

          .         .         .         .         .         .       g.74130
 gtgttttttgtttgtttgtttttaagagaagcaggtcttgctgtgttgtccaggctggac       c.*1200

          .         .         .         .         .         .       g.74190
 tgcagtggcttttcacaagcatgatcatgttgtactacaaccttgaaccttcctggcctg       c.*1260

          .         .         .         .         .         .       g.74250
 gctctaaaagctttgtaatgtggggctggtgcagtgcctcacacctgtaacccctgcact       c.*1320

          .         .         .         .         .         .       g.74310
 ttgggaggctgaggaaggaggatcgcttgaggccagaaattcaagaccagcctgggcaac       c.*1380

          .         .         .         .         .         .       g.74370
 atagacctcatctctacaaaaaatgcaaaaatcagccgggtgtggtggcacatacctgta       c.*1440

          .         .         .         .         .         .       g.74430
 gtctcaactactcgggagtctgaggcagaagatttcttgagcccaggagttcgagtctgc       c.*1500

          .         .         .         .         .         .       g.74490
 agtgagctatgatcgtgtcactgcactccagcctgggtgacagagtgaaaccctgtctca       c.*1560

          .         .         .         .         .         .       g.74550
 aaaataaaaaagtccgagtgcggtggctcaggcctgtaatcccaacattttggggggcca       c.*1620

          .         .         .         .         .         .       g.74610
 agccaggaggattggttgagcccattagttcaagaccagcctgggcaacacagcaagacc       c.*1680

          .         .         .         .         .         .       g.74670
 atatctctacaaaaaataaataggtgtgatggctcatgcctgtaatcctagtactttggg       c.*1740

          .         .         .         .         .         .       g.74730
 aggccgaggcaggcagatcacttgaggtcaggagtttgaaaccagcctggccaacatggc       c.*1800

          .         .         .         .         .         .       g.74790
 aaaaccttgtctctactaaaaatacaaaaagttagccaggcatggtggcaagcacctcta       c.*1860

          .         .         .         .         .         .       g.74850
 atctcagctactcaggaggctgaggcagtagaattgcttgaacccgggaggcagaggttg       c.*1920

          .         .         .         .         .         .       g.74910
 cagtgagccgagatcatgccactgcactccagcctgggcgacagagtgagaccctgtctc       c.*1980

          .         .         .         .         .         .       g.74970
 taaaaataagtaaataactaattaaaaagttagccagctgtggtggtgagcacctgtact       c.*2040

          .         .         .         .         .         .       g.75030
 cctaactactcaagaggctgagatgggagaattgatcaagcctaggagtttgaggctgca       c.*2100

          .         .         .         .         .         .       g.75090
 gtgaactatgatcacaacactgtactccaacctgggtaatggagtgaggccctgcctcaa       c.*2160

          .         .         .         .         .         .       g.75150
 aaacacaaaaacaaaacaaaaaaacttttataacatgtacctaacaaagatgcagagtta       c.*2220

          .         .         .         .         .         .       g.75210
 aattttatttgccagtttgtaaaagcctttgatactcattttaagggcacttagtaatta       c.*2280

          .         .         .         .         .         .       g.75270
 caatgccattatgtaattaactctatagagaacattactttcaaataatggatggtcaga       c.*2340

          .         .         .         .         .         .       g.75330
 cattaagacagccccagagagcccctacagctatcctttatcccgttttttgtttgtttt       c.*2400

          .         .         .         .         .         .       g.75390
 ttggagacagcatctccgtctcctaggctggagtgcagtggtgtgatcatgcctcactac       c.*2460

          .         .         .         .         .         .       g.75450
 agcctgtacctcctgggctcaggtgctcctcccacctcagcctcctgagtaactgggacc       c.*2520

          .         .         .         .         .         .       g.75510
 acaggtgcgcaccccctccacccagctaatttttgtattttgttgtagagatagggtttc       c.*2580

          .         .         .         .         .         .       g.75570
 actatgttgcccagactggtctcgaattcctgcagtcacatgatccatctgccttcgcct       c.*2640

          .         .         .         .         .         .       g.75630
 tccaaagtgttgggattacaggcctgagccactgtgcccagtctttttatgccacatttt       c.*2700

          .         .         .         .         .         .       g.75690
 aaaaggtttgcttattaataagcttactgttaatgaaatttagttcaaagtttaaaagta       c.*2760

          .         .         .         .         .         .       g.75750
 gaatgcagccaggcatggtggcttacgcctataatcccagcactttgggacgccaaggtg       c.*2820

          .         .         .         .         .         .       g.75810
 ggtagatcatttgaggtcaggagttcaagaccagcttggccaacatggtgagaccctgtc       c.*2880

          .         .         .         .         .         .       g.75870
 tctactaaaactacgaaaaattagccgggcatggtggcacgcgcctataatcccaactac       c.*2940

          .         .         .         .         .         .       g.75930
 ttgggaggctgtggtaggaggatcacttgaacccaggagacagaggttgcagtgagttga       c.*3000

          .         .         .         .         .         .       g.75990
 gatcgagattgtgccactgcactccagcctgggcacagagtgagattccgtctcaaaaaa       c.*3060

          .         .         .         .         .         .       g.76050
 aaaaaaaaaaaaaaaagtagaaagcaagaaagtgtctctgtacaggtaggcatgaaatga       c.*3120

          .         .         .         .         .         .       g.76110
 atccttctcttcctcccctttactcctttaaccccttctcctgcaatgtcttgaagtaaa       c.*3180

          .         .         .         .         .         .       g.76170
 ttactgtcattacagaagagcaatgcactgcatccccccaaaacctttctatatgctttt       c.*3240

          .         .         .         .         .         .       g.76230
 gctaccccgttaacagaagaatatacagaactgtcttaggcgaaagtatgtacagtagtc       c.*3300

          .         .         .         .         .         .       g.76290
 cctctcttatccactgtttcgcattctgtggtttgtgttactcatggtcaactgaggtcc       c.*3360

          .         .         .         .         .                 g.76345
 caaaatattaaacagaaaattccagaaataaacaatgtataagttttaaactgca            c.*3415

 (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 4, sigma 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 variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.