(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)
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