(used for mutation description)
(last modified July 6, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_173170.1 in the IL36RN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031864.1, covering IL36RN transcript NM_173170.1.(upstream sequence) . g.5013 ggagagtcccacc c.-121 . . . . . . g.5073 tctaacatctcctgtaggcctggcaatggcaggcaggaaagacagaggaaggaaggaggg c.-61 . . . . | 02 . . g.5801 agaagggaaggagtgaaggaaggagtgaaaaag | gggagtctacaccctgtggagctcaag c.-1 . . | 03 . . . g.7245 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.8491 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.8551 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.8611 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.8872 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.8932 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.8992 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.9040 GGCTGGAATGCCCCCATCACAGACTTCTACTTCCAGCAGTGTGACTAG c.468 G W N A P I T D F Y F Q Q C D X p.155 . . . . . . g.9100 ggcaacgtgccccccagaactccctgggcagagccagctcgggtgaggggtgagtggagg c.*60 . . . . . . g.9160 agacccatggcggacaatcactctctctgctctcaggacccccacgtctgacttagtggg c.*120 . . . . . . g.9220 cacctgaccactttgtcttctggttcccagtttggataaattctgagatttggagctcag c.*180 . . . . . . g.9280 tccacggtcctcccccactggatggtgctactgctgtggaatcttgtaaaaaccatgtgg c.*240 . . . . . . g.9340 ggtaaactgggaataacatgaaaagatttctgtggaggtggggtgggggagtggtgggaa c.*300 . . . . . . g.9400 tcattcctgcttaatggtaactgaccagtgttaccctgagccccgcaggccaacccatcc c.*360 . . . . . . g.9460 ccagttgagccttatagggtcagtagctctccacatgaagacctgtcactcaccactatg c.*420 . . . . . . g.9520 caggagagggaggtggtcatagagtcagggatctatggcccttggcccagccccacctcc c.*480 . . . . . . g.9580 ttccctttaatcctgccactgtcatatgctacctttcctatctcttccctcatcatcttg c.*540 . . . . . . g.9640 ttgtgggcatgaggaggtgctgatgtcagaagaaatggctcgagctcagaagataaaaga c.*600 . . . . . . g.9700 taagtagggtatgctgatcctcttttaaaaacccaagatacaatcaaaatcccagatgct c.*660 . . . . . . g.9760 ggtctctattcccatgaaaaagtgctcatgacatattgagaagacctacttacaaagtgg c.*720 . . . . . . g.9820 catatattgcaatttattttaattaaaagatacctatttatatatttctttatagaaaaa c.*780 . . . . . . g.9880 agtctggaagagtttacttcaattgtagcaatgtcagggtggtggcagtataggtgattt c.*840 . . . . . . g.9940 ttcttttaattctgttaatttacctgtatttcctaatttttctacaatgaagatgaattc c.*900 . . . . . . g.10000 cttgtataaaaataagaaaagaaattaatcttgaggtaagcagagtagacatcatctctg c.*960 . . . . . . g.10060 attgtcctcagcctccacttccccagagtaaattcaaattgaatcgagctctgctgctct c.*1020 . . . . . . g.10120 ggttggttgtagtagtgatcaggaaacagatctcagcaaagccactgaggaggaggctgt c.*1080 . . . . . . g.10180 gctgagtttgtgtggctggaatctctgggtaaggaacttaaagaacaaaaatcatctggt c.*1140 . . . . . . g.10240 aattctttcctagaaggatcacagcccctgggattccaaggcattggatccagtctctaa c.*1200 . . . . . . g.10300 gaaggctgctgtactggttgaattgtgtccccctcaaattcacatccttcttggaatctc c.*1260 . . . . . . g.10360 agtctgtgagtttatttggagataaggtctctgcagatgtagttagttaagacaaggtca c.*1320 . . . . . . g.10420 tgctggatgaaggtagacctaaattcaatatgactggtttccttgtatgaaaaggagagg c.*1380 . . . . . . g.10480 acacagagacagaggagatgcggggaagactatgtaaagatgaaggcagagatcggagtt c.*1440 . . . . . . g.10540 ttgcagccacaagctaagaaacaccaaggattgtggcaaccatcagaagcttggaagagg c.*1500 . . . . . . g.10600 caaagaagaattcttccctagaggctttagagggataacggctctgctgaaaccttaatc c.*1560 . . . . . . g.10660 tcagacttccagcctcctgaacgaagaaagaataaatttcggctgttttaagccaccaag c.*1620 . . . . . . g.10720 gataattggttacagcagctctaggaaactaatacagctgctaaaatgatccctgtctcc c.*1680 . . . . . . g.10780 tcgtgtttacattctgtgtgtgtcccctcccacaatgtaccaaagttgtctttgtgacca c.*1740 . . . . . . g.10840 atagaatatggcagaagtgatggcatgccacttccaagattaggttataaaagacactgc c.*1800 . . . . . . g.10900 agcttctacttgagccctctctctctgccacccaccgcccccaatctatcttggctcact c.*1860 . . . . . . g.10960 cgctctgggggaagctagctgccatgctatgagcaggcctataaagagacttacgtggta c.*1920 . . . . . . g.11020 aaaaatgaagtctcctgcccacagccacattagtgaacctagaagcagagactctgtgag c.*1980 . . . . . . g.11080 ataatcgatgtttgttgttttaagttgctcagttttggtctaacttgttatgcagcaata c.*2040 . . g.11107 gataaataatatgcagagaaagagaaa c.*2067 (downstream sequence)Legend:
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