(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)
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