(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the ISG15 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering ISG15 transcript NM_005101.3.
(upstream sequence)
. . . . g.1047
ataatagggccggtgctgcctgccgaagccggcggctgagaggcagc c.-61
. . . . . . g.1107
gaactcatctttgccagtacaggagcttgtgccgtggcccacagcccacagcccacagcc c.-1
| 02 . . . . . . g.1574
ATG | GGCTGGGACCTGACGGTGAAGATGCTGGCGGGCAACGAATTCCAGGTGTCCCTGAGC c.60
M | G W D L T V K M L A G N E F Q V S L S p.20
. . . . . . g.1634
AGCTCCATGTCGGTGTCAGAGCTGAAGGCGCAGATCACCCAGAAGATCGGCGTGCACGCC c.120
S S M S V S E L K A Q I T Q K I G V H A p.40
. . . . . . g.1694
TTCCAGCAGCGTCTGGCTGTCCACCCGAGCGGTGTGGCGCTGCAGGACAGGGTCCCCCTT c.180
F Q Q R L A V H P S G V A L Q D R V P L p.60
. . . . . . g.1754
GCCAGCCAGGGCCTGGGCCCCGGCAGCACGGTCCTGCTGGTGGTGGACAAATGCGACGAA c.240
A S Q G L G P G S T V L L V V D K C D E p.80
. . . . . . g.1814
CCTCTGAGCATCCTGGTGAGGAATAACAAGGGCCGCAGCAGCACCTACGAGGTACGGCTG c.300
P L S I L V R N N K G R S S T Y E V R L p.100
. . . . . . g.1874
ACGCAGACCGTGGCCCACCTGAAGCAGCAAGTGAGCGGGCTGGAGGGTGTGCAGGACGAC c.360
T Q T V A H L K Q Q V S G L E G V Q D D p.120
. . . . . . g.1934
CTGTTCTGGCTGACCTTCGAGGGGAAGCCCCTGGAGGACCAGCTCCCGCTGGGGGAGTAC c.420
L F W L T F E G K P L E D Q L P L G E Y p.140
. . . . . . g.1994
GGCCTCAAGCCCCTGAGCACCGTGTTCATGAATCTGCGCCTGCGGGGAGGCGGCACAGAG c.480
G L K P L S T V F M N L R L R G G G T E p.160
. g.2012
CCTGGCGGGCGGAGCTAA c.498
P G G R S X p.165
. . . . . . g.2072
gggcctccaccagcatccgagcaggatcaagggccggaaataaaggctgttgtaaagaga c.*60
g.2074
aa c.*62
(downstream sequence)
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