(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)
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