(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the IL36RN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering IL36RN transcript NM_012275.2.(upstream sequence) . . . . g.1511 cgctgggaatcctgctcctcctcaggtcctggcagtttcag c.-121 . . . . . . g.1571 ggcccctccctaggccttacttaaaaggctgaggcatccttggaggaacaggcagactcc c.-61 . . . . | 02 . . g.1801 acagctcccgccaggagaaaggaacattctgag | gggagtctacaccctgtggagctcaag c.-1 . . | 03 . . . g.3245 ATGGTCCTGAGTGGGGCGCTGTGCTTCCG | AATGAAGGACTCGGCATTGAAGGTGCTTTAT c.60 M V L S G A L C F R | M K D S A L K V L Y p.20 . . . . . | 04 . g.4491 CTGCATAATAACCAGCTTCTAGCTGGAGGGCTGCATGCAGGGAAGGTCATTAAAG | GTGAA c.120 L H N N Q L L A G G L H A G K V I K G | E p.40 . . . . . . g.4551 GAGATCAGCGTGGTCCCCAATCGGTGGCTGGATGCCAGCCTGTCCCCCGTCATCCTGGGT c.180 E I S V V P N R W L D A S L S P V I L G p.60 . . . . . . g.4611 GTCCAGGGTGGAAGCCAGTGCCTGTCATGTGGGGTGGGGCAGGAGCCGACTCTAACACTA c.240 V Q G G S Q C L S C G V G Q E P T L T L p.80 | 05 . . . . . . g.4872 GAG | CCAGTGAACATCATGGAGCTCTATCTTGGTGCCAAGGAATCCAAGAGCTTCACCTTC c.300 E | P V N I M E L Y L G A K E S K S F T F p.100 . . . . . . g.4932 TACCGGCGGGACATGGGGCTCACCTCCAGCTTCGAGTCGGCTGCCTACCCGGGCTGGTTC c.360 Y R R D M G L T S S F E S A A Y P G W F p.120 . . . . . . g.4992 CTGTGCACGGTGCCTGAAGCCGATCAGCCTGTCAGACTCACCCAGCTTCCCGAGAATGGT c.420 L C T V P E A D Q P V R L T Q L P E N G p.140 . . . . g.5040 GGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAG c.468 G W N A P I T D F Y F Q Q C D X p.155 . . . . . . g.5100 ggcaacgtgccccccagaactccctgggcagagccagctcgggtgaggggtgagtggagg c.*60 . . . . . . g.5160 agacccatggcggacaatcactctctctgctctcaggacccccacgtctgacttagtggg c.*120 . . . . . . g.5220 cacctgaccactttgtcttctggttcccagtttggataaattctgagatttggagctcag c.*180 . . . . . . g.5280 tccacggtcctcccccactggatggtgctactgctgtggaatcttgtaaaaaccatgtgg c.*240 . . . . . . g.5340 ggtaaactgggaataacatgaaaagatttctgtggaggtggggtgggggagtggtgggaa c.*300 . . . . . . g.5400 tcattcctgcttaatggtaactgaccagtgttaccctgagccccgcaggccaacccatcc c.*360 . . . . . . g.5460 ccagttgagccttatagggtcagtagctctccacatgaagacctgtcactcaccactatg c.*420 . . . . . . g.5520 caggagagggaggtggtcatagagtcagggatctatggcccttggcccagccccacctcc c.*480 . . . . . . g.5580 ttccctttaatcctgccactgtcatatgctacctttcctatctcttccctcatcatcttg c.*540 . . . . . . g.5640 ttgtgggcatgaggaggtgctgatgtcagaagaaatggctcgagctcagaagataaaaga c.*600 . . . . . . g.5700 taagtagggtatgctgatcctcttttaaaaacccaagatacaatcaaaatcccagatgct c.*660 . . . . . . g.5760 ggtctctattcccatgaaaaagtgctcatgacatattgagaagacctacttacaaagtgg c.*720 . . . . . . g.5820 catatattgcaatttattttaattaaaagatacctatttatatatttctttatagaaaaa c.*780 . . . . . . g.5880 agtctggaagagtttacttcaattgtagcaatgtcagggtggtggcagtataggtgattt c.*840 . . . . . . g.5940 ttcttttaattctgttaatttacctgtatttcctaatttttctacaatgaagatgaattc c.*900 . . . . . . g.6000 cttgtataaaaataagaaaagaaattaatcttgaggtaagcagagtagacatcatctctg c.*960 . . . . . . g.6060 attgtcctcagcctccacttccccagagtaaattcaaattgaatcgagctctgctgctct c.*1020 . . . . . . g.6120 ggttggttgtagtagtgatcaggaaacagatctcagcaaagccactgaggaggaggctgt c.*1080 . . . . . . g.6180 gctgagtttgtgtggctggaatctctgggtaaggaacttaaagaacaaaaatcatctggt c.*1140 . . . . . . g.6240 aattctttcctagaaggatcacagcccctgggattccaaggcattggatccagtctctaa c.*1200 . . . . . . g.6300 gaaggctgctgtactggttgaattgtgtccccctcaaattcacatccttcttggaatctc c.*1260 . . . . . . g.6360 agtctgtgagtttatttggagataaggtctctgcagatgtagttagttaagacaaggtca c.*1320 . . . . . . g.6420 tgctggatgaaggtagacctaaattcaatatgactggtttccttgtatgaaaaggagagg c.*1380 . . . . . . g.6480 acacagagacagaggagatgcggggaagactatgtaaagatgaaggcagagatcggagtt c.*1440 . . . . . . g.6540 ttgcagccacaagctaagaaacaccaaggattgtggcaaccatcagaagcttggaagagg c.*1500 . . . . . . g.6600 caaagaagaattcttccctagaggctttagagggataacggctctgctgaaaccttaatc c.*1560 . . . . . . g.6660 tcagacttccagcctcctgaacgaagaaagaataaatttcggctgttttaagccaccaag c.*1620 . . . . . . g.6720 gataattggttacagcagctctaggaaactaatacagctgctaaaatgatccctgtctcc c.*1680 . . . . . . g.6780 tcgtgtttacattctgtgtgtgtcccctcccacaatgtaccaaagttgtctttgtgacca c.*1740 . . . . . . g.6840 atagaatatggcagaagtgatggcatgccacttccaagattaggttataaaagacactgc c.*1800 . . . . . . g.6900 agcttctacttgagccctctctctctgccacccaccgcccccaatctatcttggctcact c.*1860 . . . . . . g.6960 cgctctgggggaagctagctgccatgctatgagcaggcctataaagagacttacgtggta c.*1920 . . . . . . g.7020 aaaaatgaagtctcctgcccacagccacattagtgaacctagaagcagagactctgtgag c.*1980 . . . . . . g.7080 ataatcgatgtttgttgttttaagttgctcagttttggtctaacttgttatgcagcaata c.*2040 . . g.7107 gataaataatatgcagagaaagagaaa c.*2067 (downstream sequence)Legend:
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