(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)Legend:
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