(used for variant description)
(last modified March 13, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_001009606.2 in the HS3ST6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering HS3ST6 transcript NM_001009606.2.
(upstream sequence)
. . . . . . g.60
ATGCTGCTCGTGGCCCTGGTGCTCGGCGCCTACTGCCTCTGCGCCCTCCCCGGCCGCTGC c.60
M L L V A L V L G A Y C L C A L P G R C p.20
. . . . . . g.120
CCGCCGGCCGCCCGCGCCCCCGCGCCGGCCCCCGCGCCCTCCGAGCCGTCCAGCTCCGTC c.120
P P A A R A P A P A P A P S E P S S S V p.40
. . . . . . g.180
CACCGCCCGGGAGCACCCGGCCTGCCTTTGGCCAGCGGTCCCGGCCGCCGGCGCTTCCCG c.180
H R P G A P G L P L A S G P G R R R F P p.60
. . . . . . g.240
CAAGCGCTCATCGTTGGCGTGAAGAAGGGCGGCACGCGCGCCCTGCTGGAGTTTCTGCGG c.240
Q A L I V G V K K G G T R A L L E F L R p.80
. . . . . . g.300
CTGCACCCCGACGTCCGCGCGCTGGGCTCTGAGCCCCACTTCTTCGACAGGTGCTACGAG c.300
L H P D V R A L G S E P H F F D R C Y E p.100
. . | 02 . . . . g.6065
CGCGGCCTCGCCTGGTACCG | GAGTCTGATGCCCCGAACCCTGGATGGGCAGATCACCATG c.360
R G L A W Y R | S L M P R T L D G Q I T M p.120
. . . . . . g.6125
GAGAAGACCCCCAGCTACTTCGTGACGCGAGAGGCCCCCCGCCGCATCCACGCCATGTCC c.420
E K T P S Y F V T R E A P R R I H A M S p.140
. . . . . . g.6185
CCGGACACGAAGCTGATCGTGGTGGTGCGGAACCCCGTGACCCGGGCCATCTCCGACTAC c.480
P D T K L I V V V R N P V T R A I S D Y p.160
. . . . . . g.6245
GCCCAGACGCTCTCCAAGACCCCGGGCCTGCCCAGCTTCCGCGCCCTGGCCTTCCGCCAC c.540
A Q T L S K T P G L P S F R A L A F R H p.180
. . . . . . g.6305
GGCCTGGGCCCCGTGGACACAGCCTGGAGCGCCGTCCGCATCGGCCTGTACGCCCAGCAC c.600
G L G P V D T A W S A V R I G L Y A Q H p.200
. . . . . . g.6365
CTGGACCACTGGCTGCGCTACTTCCCCCTGTCCCACTTCCTGTTCGTCAGCGGGGAGCGT c.660
L D H W L R Y F P L S H F L F V S G E R p.220
. . . . . . g.6425
CTGGTCAGCGACCCGGCCGGAGAGGTCGGCCGCGTGCAGGACTTCCTGGGCCTGAAACGG c.720
L V S D P A G E V G R V Q D F L G L K R p.240
. . . . . . g.6485
GTCGTCACGGACAAGCACTTCTACTTCAACGCCACCAAGGGCTTCCCCTGCCTCAAGAAG c.780
V V T D K H F Y F N A T K G F P C L K K p.260
. . . . . . g.6545
GCCCAGGGCGGCAGCCGTCCCCGCTGCCTGGGCAAGTCCAAGGGCCGGCCACACCCACGC c.840
A Q G G S R P R C L G K S K G R P H P R p.280
. . . . . . g.6605
GTGCCCCAGGCCCTGGTCCGGCGCCTGCAGGAGTTCTACCGGCCCTTCAACCGCAGGTTC c.900
V P Q A L V R R L Q E F Y R P F N R R F p.300
. . . g.6641
TACCAGATGACGGGCCAGGACTTCGGCTGGGGCTGA c.936
Y Q M T G Q D F G W G X p.311
. . . . . . g.6701
gcggcaccctggggatgctcagcaccttgattgacacccgctcgcctggccagagcgggc c.*60
. . . . . . g.6761
tgcgtgcacatgctgggcagagaggaatatttaagaaataaagcttggacccagattttt c.*120
g.6768
ccacaaa c.*127
(downstream sequence)
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