DnaJ (Hsp40) homolog, subfamily B, member 6 (DNAJB6) - coding DNA reference sequence

(used for mutation description)

(last modified April 6, 2012)


This file was created to facilitate the description of sequence variants in the DNAJB6 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_032573.1, covering DNAJB6 transcript variant-1 (NM_058246.3). Transcript variant-2 (NM_005494.2) terminates in intron 8, using an alternative polyA-addition site. The encoded DNAJB6-isoform contains an alternative 10 amino acid C-terminus.

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5035
                           gagaaaggagagaaaggaaagcgcgaggagccgc       c.-121

 .         .         .         .         .         .                g.5095
 cgccaccaccagcgcagcagtcctggagctgtgaggagattcgggccgtcaccctgcctc       c.-61

 .         .         .         .    | 02    .         .             g.26557
 ccctgcgtcccgccaccggccgcttctgtcctcg | gacccattccaacaatctcgtaaaac    c.-1

          .         .         .         .         .         .       g.26617
 ATGGTGGATTACTATGAAGTTCTAGGCGTGCAGAGACATGCCTCACCCGAGGATATTAAA       c.60
 M  V  D  Y  Y  E  V  L  G  V  Q  R  H  A  S  P  E  D  I  K         p.20

       | 03  .         .         .         .         .         .    g.31200
 AAGGC | ATATCGGAAACTGGCACTGAAGTGGCATCCAGATAAAAATCCTGAGAATAAAGAA    c.120
 K  A  |  Y  R  K  L  A  L  K  W  H  P  D  K  N  P  E  N  K  E      p.40

          .         .         .         .         .      | 04  .    g.34491
 GAAGCAGAGAGAAAATTCAAGCAAGTAGCGGAGGCATATGAAGTGCTGTCGGATG | CTAAG    c.180
 E  A  E  R  K  F  K  Q  V  A  E  A  Y  E  V  L  S  D  A |   K      p.60

          .         .         .         .         .      | 05  .    g.35362
 AAACGGGACATCTATGACAAATATGGCAAAGAAGGATTAAATGGTGGAGGAGGAG | GTGGA    c.240
 K  R  D  I  Y  D  K  Y  G  K  E  G  L  N  G  G  G  G  G |   G      p.80

          .         .         .         .         .         .       g.35422
 AGTCATTTTGACAGTCCATTTGAATTTGGCTTCACATTCCGTAACCCAGATGATGTCTTC       c.300
 S  H  F  D  S  P  F  E  F  G  F  T  F  R  N  P  D  D  V  F         p.100

          .         .         .         .       | 06 .         .    g.50244
 AGGGAATTTTTTGGTGGAAGGGACCCATTTTCATTTGACTTCTTTG | AAGACCCTTTTGAG    c.360
 R  E  F  F  G  G  R  D  P  F  S  F  D  F  F  E |   D  P  F  E      p.120

          .         .         .         .         .         .       g.50304
 GACTTCTTTGGGAATCGAAGGGGTCCCCGAGGAAGCAGAAGCCGAGGGACGGGGTCGTTT       c.420
 D  F  F  G  N  R  R  G  P  R  G  S  R  S  R  G  T  G  S  F         p.140

          .         .         .         .         .         | 07    g.52853
 TTCTCTGCGTTCAGTGGATTTCCGTCTTTTGGAAGTGGATTTTCTTCTTTTGATACAG | GA    c.480
 F  S  A  F  S  G  F  P  S  F  G  S  G  F  S  S  F  D  T  G |       p.160

          .         .         .         .         .         .       g.52913
 TTTACTTCATTTGGGTCACTAGGTCACGGGGGCCTCACTTCATTCTCTTCCACGTCATTT       c.540
 F  T  S  F  G  S  L  G  H  G  G  L  T  S  F  S  S  T  S  F         p.180

          .         .         .         .         .         .       g.52973
 GGTGGTAGTGGCATGGGCAACTTCAAATCGATATCAACTTCAACTAAAATGGTTAATGGC       c.600
 G  G  S  G  M  G  N  F  K  S  I  S  T  S  T  K  M  V  N  G         p.200

          .         . | 08       .         .         .         .    g.53565
 AGAAAAATCACTACAAAGAG | AATTGTCGAGAACGGTCAAGAAAGAGTAGAAGTTGAAGAA    c.660
 R  K  I  T  T  K  R  |  I  V  E  N  G  Q  E  R  V  E  V  E  E      p.220

          .         .         .  | 09      .         .         .    g.77808
 GATGGCCAGTTAAAGTCCTTAACAATAAATG | GTGTGGCCGACGACGATGCCCTCGCTGAG    c.720
 D  G  Q  L  K  S  L  T  I  N  G |   V  A  D  D  D  A  L  A  E      p.240

          .         .         .         .         .         .       g.77868
 GAGCGCATGCGGAGAGGCCAGAACGCCCTGCCAGCCCAGCCTGCCGGCCTCCGCCCGCCG       c.780
 E  R  M  R  R  G  Q  N  A  L  P  A  Q  P  A  G  L  R  P  P         p.260

          .         .         .         .         .         .       g.77928
 AAGCCGCCCCGGCCTGCCTCGCTGCTGAGACACGCGCCTCACTGTCTCTCTGAGGAGGAG       c.840
 K  P  P  R  P  A  S  L  L  R  H  A  P  H  C  L  S  E  E  E         p.280

          .         .         .         .         .         | 10    g.84002
 GGCGAGCAGGACCGACCTCGGGCACCCGGGCCCTGGGACCCCCTCGCGTCCGCAGCAG | GA    c.900
 G  E  Q  D  R  P  R  A  P  G  P  W  D  P  L  A  S  A  A  G |       p.300

          .         .         .         .         .         .       g.84062
 TTGAAAGAAGGTGGCAAGAGGAAGAAGCAGAAGCAGAGAGAGGAGTCGAAGAAGAAGAAG       c.960
 L  K  E  G  G  K  R  K  K  Q  K  Q  R  E  E  S  K  K  K  K         p.320

          .         .                                               g.84083
 TCGACCAAAGGCAATCACTAG                                              c.981
 S  T  K  G  N  H  X                                                p.326

          .         .         .         .         .         .       g.84143
 accggacttgaggcacgcggtgcacccccagacgctggcgctccaccgtgctcggcatgc       c.*60

          .         .         .         .         .         .       g.84203
 ggtcgtgcacacgcgctaggtagcagcgtcggtcaggactgtctcgaggccacactcgct       c.*120

          .         .         .         .         .         .       g.84263
 cggcaggattatgcgatcacggatcagtcagagcagggtcaggagacggggctgacggca       c.*180

          .         .         .         .         .         .       g.84323
 cgggtggcggggacagacgtttgggacttggccgcgactctctgcttctctccagctctc       c.*240

          .         .         .         .         .         .       g.84383
 aatctgctgcattttcctctagtgcttccggatcctcttcattcttttcggctactcaac       c.*300

          .         .         .         .         .         .       g.84443
 cactccgcatgctgctggaatatttctggctttagaagtacaggagggcgcagatggcta       c.*360

          .         .         .         .         .         .       g.84503
 actgagtaacattcatgaaatgaggctttctgtggcggcgtagtgtttggaattagaagg       c.*420

          .         .         .         .         .         .       g.84563
 taattcagtagagtgtaacttagagaatattgcaagtgacacattgaatcctgcccgtca       c.*480

          .         .         .         .         .         .       g.84623
 gggcaccttttcctcagagcaatccggccacacgaatagaaggctgtcgtgaatcacatc       c.*540

          .         .         .         .         .         .       g.84683
 agatgtaaaatcattccttctgtttactcttttaattttcatcctttgcaggtagtgcaa       c.*600

          .         .         .         .         .         .       g.84743
 attcaacttcaaatatggtgtaggttttgctagattccatatttttttcttggatttttg       c.*660

          .         .         .         .         .         .       g.84803
 ctaattatttttagcaaaaaatttttgctcagtggcactctccctagtgtccatgggtta       c.*720

          .         .         .         .         .         .       g.84863
 gggccatgctggggaaaacgggccggtatttacacacgcgcaaaacacccagagacggca       c.*780

          .         .         .         .         .         .       g.84923
 caaggaggttgaactcatgtttcagttcgcgaacattgactccttacgaaagtcacttca       c.*840

          .         .         .         .         .         .       g.84983
 ttctaactagatgcgcccacttccggtcattatttcgtttgcatgatgtattgcttcttc       c.*900

          .         .         .         .         .         .       g.85043
 acgttttgtttttattgagcacggagtagaattccagggctgccttgacttcttccctgc       c.*960

          .         .         .         .         .         .       g.85103
 atgctccctcccagtgactttccttccctttcacatgaggatctgccgttcatgttgctt       c.*1020

          .         .         .         .         .         .       g.85163
 tctcctttgtcctcttggacttgagggcattgtgaaaagctttgctgtgatttaaaaatg       c.*1080

          .         .         .         .         .         .       g.85223
 ccagcaattttaatctagcagtgttgaagctgggaattttttggcgcaatccatgtagca       c.*1140

          .         .         .         .         .         .       g.85283
 gtgacccaggcttgggagccagaaacaagtgtgacctgggattttatttaacacaactgt       c.*1200

          .         .         .         .         .         .       g.85343
 tgccaaagagttggctttgtttatttggttttggcggggagaggagtggtatttgatgct       c.*1260

          .         .         .         .         .         .       g.85403
 ttctgtggacaatgtaaccctaaacacatcatgtattttaaatgccacctacataaataa       c.*1320

          .         .                                               g.85424
 aacataagcatattgaataca                                              c.*1341

 (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 10th nucleotide is indicated by a "." above the sequence. The DnaJ (Hsp40) homolog, subfamily B, member 6 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

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