(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the IL1RN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering IL1RN transcript NM_173841.2.(upstream sequence) g.7783 gggcag c.-121 . . . . . . g.7843 ctccaccctgggagggactgtggcccaggtactgcccgggtgctactttatgggcagcag c.-61 . . . . . . g.7903 ctcagttgagttagagtctggaagacctcagaagacctcctgtcctatgaggccctcccc c.-1 . | 02 . . . . . g.10000 ATGGCTTTAG | CTGACTTGTATGAAGAAGGAGGTGGAGGAGGAGGAGAAGGTGAAGACAAT c.60 M A L A | D L Y E E G G G G G G E G E D N p.20 . | 03 . . . . . g.17620 GCTGACTCAAAGG | AGACGATCTGCCGACCCTCTGGGAGAAAATCCAGCAAGATGCAAGCC c.120 A D S K E | T I C R P S G R K S S K M Q A p.40 | 04 . . . . . . g.19515 TTCAG | AATCTGGGATGTTAACCAGAAGACCTTCTATCTGAGGAACAACCAACTAGTTGCT c.180 F R | I W D V N Q K T F Y L R N N Q L V A p.60 . . . | 05 . . . g.20955 GGATACTTGCAAGGACCAAATGTCAATTTAGAAG | AAAAGATAGATGTGGTACCCATTGAG c.240 G Y L Q G P N V N L E E | K I D V V P I E p.80 . . . . . . g.21015 CCTCATGCTCTGTTCTTGGGAATCCATGGAGGGAAGATGTGCCTGTCCTGTGTCAAGTCT c.300 P H A L F L G I H G G K M C L S C V K S p.100 . . | 06. . . . g.22573 GGTGATGAGACCAGACTCCAGCTGGAG | GCAGTTAACATCACTGACCTGAGCGAGAACAGA c.360 G D E T R L Q L E | A V N I T D L S E N R p.120 . . . . . . g.22633 AAGCAGGACAAGCGCTTCGCCTTCATCCGCTCAGACAGTGGCCCCACCACCAGTTTTGAG c.420 K Q D K R F A F I R S D S G P T T S F E p.140 . . . . . . g.22693 TCTGCCGCCTGCCCCGGTTGGTTCCTCTGCACAGCGATGGAAGCTGACCAGCCCGTCAGC c.480 S A A C P G W F L C T A M E A D Q P V S p.160 . . . . . . g.22753 CTCACCAATATGCCTGACGAAGGCGTCATGGTCACCAAATTCTACTTCCAGGAGGACGAG c.540 L T N M P D E G V M V T K F Y F Q E D E p.180 g.22756 TAG c.543 X p.180 . . . . . . g.22816 tactgcccaggcctgcctgttcccattcttgcatggcaaggactgcagggactgccagtc c.*60 . . . . . . g.22876 cccctgccccagggctcccggctatgggggcactgaggaccagccattgaggggtggacc c.*120 . . . . . . g.22936 ctcagaaggcgtcacaacaacctggtcacaggactctgcctcctcttcaactgaccagcc c.*180 . . . . . . g.22996 tccatgctgcctccagaatggtctttctaatgtgtgaatcagagcacagcagcccctgca c.*240 . . . . . . g.23056 caaagcccttccatgtcgcctctgcattcaggatcaaaccccgaccacctgcccaacctg c.*300 . . . . . . g.23116 ctctcctcttgccactgcctcttcctccctcattccaccttcccatgccctggatccatc c.*360 . . . . . . g.23176 aggccacttgatgacccccaaccaagtggctcccacaccctgttttacaaaaaagaaaag c.*420 . . . . . . g.23236 accagtccatgagggaggtttttaagggtttgtggaaaatgaaaattaggatttcatgat c.*480 . . . . . . g.23296 ttttttttttcagtccccgtgaaggagagcccttcatttggagattatgttctttcgggg c.*540 . . . . . . g.23356 agaggctgaggacttaaaatattcctgcatttgtgaaatgatggtgaaagtaagtggtag c.*600 . . . . . . g.23416 cttttcccttctttttcttctttttttgtgatgtcccaacttgtaaaaattaaaagttat c.*660 . . . . . . g.23476 ggtactatgttagccccataattttttttttccttttaaaacacttccataatctggact c.*720 . . . . . . g.23536 cctctgtccaggcactgctgcccagcctccaagctccatctccactccagattttttaca c.*780 . . . . . . g.23596 gctgcctgcagtactttacctcctatcagaagtttctcagctcccaaggctctgagcaaa c.*840 . . . . . . g.23656 tgtggctcctgggggttctttcttcctctgctgaaggaataaattgctccttgacattgt c.*900 . . . . . . g.23716 agagcttctggcacttggagacttgtatgaaagatggctgtgcctctgcctgtctccccc c.*960 . . . . . . g.23776 accgggctgggagctctgcagagcaggaaacatgactcgtatatgtctcaggtccctgca c.*1020 . . . . . . g.23836 gggccaagcacctagcctcgctcttggcaggtactcagcgaatgaatgctgtatatgttg c.*1080 . . . . . . g.23896 ggtgcaaagttccctacttcctgtgacttcagctctgttttacaataaaatcttgaaaat c.*1140 g.23901 gccta c.*1145 (downstream sequence)Legend:
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