(used for mutation description)
(last modified April 30, 2014)
This file was created to facilitate the description of sequence variants in the IL10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering IL10 transcript NM_000572.2.
(upstream sequence)
. . . . . . g.60
CTTATTAAAGGCATTCTTCACCTGCTCCACGGCCTTGCTCTTGTTTTCACAGGGAAGAAA c.60
L I K G I L H L L H G L A L V F T G K K p.20
| 02 . g.1132
TCGATG | ACAGCGCCGTAG c.78
S M | T A P X p.25
. . . . . . g.1192
cctcagcctgagggtcttcaggttctcccccagggagttcacatgcgccttgatgtctgg c.*60
. . . . . . g.1252
gtcttggttctcagcttggggcatcacctcctccaggtaaaactggatcatctcagacaa c.*120
. . | 03 . . . . g.1608
ggcttggcaacccaggtaacc | cttaaagtcctccagcaaggactcctttaacaacaagtt c.*180
. . | 04 . . . . g.2523
gtccagctgatccttcatttg | aaagaaagtcttcactctgctgaaggcatctcggagatc c.*240
. . . . . . g.2583
tcgaagcatgttaggcaggttgcctgggaagtgggtgcagctgttctcagactgggtgcc c.*300
. . . . . . g.2643
ctggcctgggctggccctcaccccagtcaggaggaccaggcaacagagcagtgctgagct c.*360
. . . . . . g.2703
gtgcatgccttcttttgcaagtctgtcttgtggtttggttttgcaagagcaagcccctga c.*420
| 05 . . . . . . g.2763
tgtgt | g c.*426
(downstream sequence)
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