biogenesis of lysosomal organelles complex-1, subunit 6, pallidin (BLOC1S6) - 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 BLOC1S6 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000015.9, covering BLOC1S6 transcript NM_012388.2.

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

 (upstream sequence)
                     .         .         .         .                g.1045
                acactgcgtccggggccagacgacgatatcagcgcggggtcccca       c.-181

 .         .         .         .         .         .                g.1105
 caacgccatggggcagagccaactctcgagcgcgtgatcgaagcccgcagttttttcgcc       c.-121

 .         .         .         .         .         .                g.1165
 cccgtcacttccgggtgcgacaatctcttctgtccggccagccgctggagtcgttaggtg       c.-61

 .         .         .         .         .         .                g.1225
 ccgccttgcttctgacgagccacacgtttgcttcttccctgtgttcccagctggagggac       c.-1

          .         .         .         .         .         .       g.1285
 ATGAGTGTCCCTGGGCCGTCGTCTCCGGACGGGGCCCTGACACGGCCACCCTACTGCCTG       c.60
 M  S  V  P  G  P  S  S  P  D  G  A  L  T  R  P  P  Y  C  L         p.20

          .         .   | 02     .         .         .         .    g.5954
 GAGGCCGGGGAGCCGACGCCTG | GTTTAAGTGACACTTCTCCAGATGAAGGGTTAATAGAG    c.120
 E  A  G  E  P  T  P  G |   L  S  D  T  S  P  D  E  G  L  I  E      p.40

          .         .         .         .         .         .       g.6014
 GACTTGACTATAGAAGACAAAGCAGTGGAGCAACTGGCAGAAGGATTGCTTTCTCATTAT       c.180
 D  L  T  I  E  D  K  A  V  E  Q  L  A  E  G  L  L  S  H  Y         p.60

          .         .         .         .     | 03   .         .    g.16897
 TTGCCAGATCTGCAGAGATCAAAACAAGCCCTCCAGGAACTCAC | ACAGAACCAAGTTGTA    c.240
 L  P  D  L  Q  R  S  K  Q  A  L  Q  E  L  T  |  Q  N  Q  V  V      p.80

          .         .         .         .         .         .       g.16957
 TTGTTAGACACACTGGAACAAGAGATTTCAAAATTTAAAGAATGTCATTCTATGTTGGAT       c.300
 L  L  D  T  L  E  Q  E  I  S  K  F  K  E  C  H  S  M  L  D         p.100

          .   | 04     .         .         .         .         .    g.19257
 ATTAATGCTTTG | TTTGCTGAGGCTAAACACTATCATGCCAAGTTGGTGAATATAAGAAAA    c.360
 I  N  A  L   | F  A  E  A  K  H  Y  H  A  K  L  V  N  I  R  K      p.120

          .         .         .          | 05        .         .    g.20197
 GAGATGCTGATGCTTCATGAAAAAACATCAAAGTTAAAA | AAAAGAGCACTTAAACTGCAG    c.420
 E  M  L  M  L  H  E  K  T  S  K  L  K   | K  R  A  L  K  L  Q      p.140

          .         .         .         .         .         .       g.20257
 CAGAAGAGGCAAAAAGAAGAGTTGGAAAGGGAGCAGCAACGAGAGAAGGAGTTTGAAAGA       c.480
 Q  K  R  Q  K  E  E  L  E  R  E  Q  Q  R  E  K  E  F  E  R         p.160

          .         .         .                                     g.20296
 GAAAAGCAGTTAACTGCCAGACCAGCCAAAAGGATGTGA                            c.519
 E  K  Q  L  T  A  R  P  A  K  R  M  X                              p.172

          .         .         .         .         .         .       g.20356
 aaagttgtgtttgtgtgttttcttctcctgtcccatatttgggttatgatgactcaagtg       c.*60

          .         .         .         .         .         .       g.20416
 tagactgaagttgaggtagtgccttatgccattatgtcatatgttgaaatccttattccg       c.*120

          .         .         .         .         .         .       g.20476
 gtattactgtgtctccatgccttttttccaagtagcagacgtcatgttgcatggtttttg       c.*180

          .         .         .         .         .         .       g.20536
 atatttatatgtaagtttttcaaattttgcttaattttaaaatttattattttgatcttg       c.*240

          .         .         .         .         .         .       g.20596
 aattatttataaactggaaagtggtttgattattgtgagtcaaaactctaagtggttaaa       c.*300

          .         .         .         .         .         .       g.20656
 aattagtatgaattttttagcttcttaatgaatatggatttaaaactctccagttcttat       c.*360

          .         .         .         .         .         .       g.20716
 tttatgaaatgacttgcctttctggtaatacaatgctgattttttagtaattgccttttc       c.*420

          .         .         .         .         .         .       g.20776
 attactttgttaagaagaaatgccagctgtttaatcacacctacccctggaaaagaggta       c.*480

          .         .         .         .         .         .       g.20836
 aaccttttgaacagttgaatttcatcagaagctctatagctttttggtgagaggaagtga       c.*540

          .         .         .         .         .         .       g.20896
 tactctttattacaagaaacaaggaattaacaaaaataaggaacttgttgctacctttct       c.*600

          .         .         .         .         .         .       g.20956
 tttctgttgaacattaaaaataatttggtttgtggactgggcatggtggcttatggaaaa       c.*660

          .         .         .         .         .         .       g.21016
 gaggtgagcctttgtgaagaacataatggaaaagtgcatgtacgggaaataacagcactt       c.*720

          .         .         .         .         .         .       g.21076
 taggtgtagttcaggtgagcaagatgccagatagtttctactaaccatatactctttctg       c.*780

          .         .         .         .         .         .       g.21136
 cttcttagcgtcgttgtcactgcttctgtggcttttgggttcaaagtagattatatatat       c.*840

          .         .         .         .         .         .       g.21196
 tcctaaagcttggtggaggtagtggagctatcacacactcaaatgagcttgtatatttat       c.*900

          .         .         .         .         .         .       g.21256
 aatacaatatagtattatagtaacagttatcatacactgagatatagtttctgtgcttgt       c.*960

          .         .         .         .         .         .       g.21316
 aaaaaattcttgaagtgaggccgggtgcggtggctcatgcctgtaatcccaacgctttgg       c.*1020

          .         .         .         .         .         .       g.21376
 gacgccgaggcgggtggatcatgaggtcaaaagattgagaccatcctggccaacatggtg       c.*1080

          .         .         .         .         .         .       g.21436
 aaaccccgtctctactagaaatacaaaaattagctgggtgtgggggcgtgcgcctgtagt       c.*1140

          .         .         .         .         .         .       g.21496
 cccagctacttgggaggctgaggcaggagaattgcttgaacccaggaggcagaggttgca       c.*1200

          .         .         .         .         .         .       g.21556
 gtaagccaagatcgtgccactgcactccagccttggtgacagagcaagactccgtctcca       c.*1260

          .         .         .         .         .         .       g.21616
 aaaaaaagaaaaaaaaatttcttgaagtggaatgatgtacaccaaatacccactttatag       c.*1320

          .         .         .         .         .         .       g.21676
 ataattacagggatggtgaaaaattagtaaatagcttcacaaaagaggcagcgtgatacc       c.*1380

          .         .         .         .         .         .       g.21736
 tttagtgttttctagaatttttttctggatattatatgtaagaatttattgtttgaggga       c.*1440

          .         .         .         .         .         .       g.21796
 aatacgaggtttcattgtttaaaatcaagagtgtattgtttactgttttacagtattatt       c.*1500

          .         .         .         .         .         .       g.21856
 taatatccaactggtctccaatctccattacatagggactgtacagagcctgtgaagatg       c.*1560

          .         .         .         .         .         .       g.21916
 tatgaatggtatcttttataatccacaatacatttctggtaagatggaatcactacctct       c.*1620

          .         .         .         .         .         .       g.21976
 gatcacatatcaggctaacgatagagaaagcattaggtttaagttgagggctaagaactg       c.*1680

          .         .         .         .         .         .       g.22036
 gtttgtttaaaggtttaaattgttggaaaagagcatttgccttctttaatgaatgatggt       c.*1740

          .         .         .         .         .         .       g.22096
 ctcacaattcagttgactttgacctaatatttaagaatataaatatattttatttgaaag       c.*1800

          .         .         .         .         .         .       g.22156
 gctgagtgttgccctcaaacacttgctaaaactgcctagggcaggattcattagggcttg       c.*1860

          .         .         .         .         .         .       g.22216
 cagacaatgtcacctaaattgctgaatgtactcattataatatgatatctgacaaaggta       c.*1920

          .         .         .         .         .         .       g.22276
 gtacagcgtttctgagtcatttgggaccaactgcagtggttgtttaaaatgctggttcct       c.*1980

          .         .         .         .         .         .       g.22336
 gcacacaattctctatctactgaagcacatctgttttctttgtttgttttgctttgcttt       c.*2040

          .         .         .         .         .         .       g.22396
 ttgtttttaaagtttcccccagtgattccagtgcacctgaaaagttgagaaccacaggct       c.*2100

          .         .         .         .         .         .       g.22456
 tagtggtacgttggggtttcccacgctaggctgcatagcattataacctgggaacgttaa       c.*2160

          .         .         .         .         .         .       g.22516
 aaaaaatacagacattcttgattcttagtgtagttatgatgtggatcctacgtatttttt       c.*2220

          .         .         .         .         .         .       g.22576
 aaaaaactctccagataattttgatgtcacgagtcactagtatagactatctatctagtg       c.*2280

          .         .         .         .         .         .       g.22636
 agttgtattataagcgatgaaatactttaaaagctacccagtaactcttgggattaattt       c.*2340

          .         .         .         .         .         .       g.22696
 tatgaaataaattctgagctgctgcttttgatatagtcagacttaagactgaaccccagt       c.*2400

          .         .         .         .         .         .       g.22756
 agacaggcaatagatatagaattctggttagctaattgaacttttgtgacctgtttaaaa       c.*2460

          .         .         .         .         .         .       g.22816
 acaaatcaaatttattgaacaaatgacaaggcacaaatactttcagaattgtatttcagt       c.*2520

          .         .         .         .         .         .       g.22876
 tttgaagatttaaaaaaaatgtgaaaataaatatatattagtatcctttattttaaagtc       c.*2580

          .         .         .         .         .         .       g.22936
 aattgtaaaccagaagtactgttattttggtgattaaaatccaaaactttagctgtattt       c.*2640

          .         .         .         .         .         .       g.22996
 cagtaacaaaaacataccttactagactgtgatggctcacacctgtaatcccagtgcttt       c.*2700

          .         .         .         .         .         .       g.23056
 gggaggctgaggtgggaagattctttgagcccaggagttcaaggctgcagtgaattctga       c.*2760

          .         .         .         .         .         .       g.23116
 tcgcaccactgaactccagcccgtatgacagagtgagaccctgtttctaaaaacaaaaca       c.*2820

          .         .         .         .         .         .       g.23176
 aacaaacaaacaaacaacgtatcttactgactaaactggaatggaaatcttataattagt       c.*2880

          .         .         .         .         .         .       g.23236
 gttgtatttttctgcaaaatagtgaattggtacttgggagacttctgttctttgttgaaa       c.*2940

          .         .         .         .         .         .       g.23296
 aaaattgcctttgttttgaaattatatcacctgtgttctgaactaaaatgatgggagttc       c.*3000

          .         .         .         .         .         .       g.23356
 attttgtatttactttgcagtaagtatcatgtaaatatgcaaatgttgaatgtaatatag       c.*3060

          .         .         .         .         .         .       g.23416
 attgtgtcctcattgagtttttgggtgatacagtttataaatataacaattatacaccct       c.*3120

          .         .         .         .         .         .       g.23476
 catacattcgtctgattttgagcttgtaagatgagaactgctttttacacatttaataaa       c.*3180

          .                                                         g.23493
 aaaaggtctctgaatta                                                  c.*3197

 (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 Biogenesis of lysosomal organelles complex-1, subunit 6, pallidin 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.