(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)
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