(used for mutation description)
(last modified July 9, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_000589.2 in the IL4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023252.1, covering IL4 transcript NM_000589.2.
(upstream sequence)
. g.5010
ttctatgcaa c.-361
. . . . . . g.5070
agcaaaaagccagcagcagccccaagctgataagattaatctaaagagcaaattatggtg c.-301
. . . . . . g.5130
taatttcctatgctgaaactttgtagttaattttttaaaaaggtttcattttcctattgg c.-241
. . . . . . g.5190
tctgatttcacaggaacattttacctgtttgtgaggcattttttctcctggaagagaggt c.-181
. . . . . . g.5250
gctgattggccccaagtgactgacaatctggtgtaacgaaaatttccaatgtaaactcat c.-121
. . . . . . g.5310
tttccctcggtttcagcaattttaaatctatatatagagatatctttgtcagcattgcat c.-61
. . . . . . g.5370
cgttagcttctcctgataaactaattgcctcacattgtcactgcaaatcgacacctatta c.-1
. . . . . . g.5430
ATGGGTCTCACCTCCCAACTGCTTCCCCCTCTGTTCTTCCTGCTAGCATGTGCCGGCAAC c.60
M G L T S Q L L P P L F F L L A C A G N p.20
. . . . . . g.5490
TTTGTCCACGGACACAAGTGCGATATCACCTTACAGGAGATCATCAAAACTTTGAACAGC c.120
F V H G H K C D I T L Q E I I K T L N S p.40
. | 02 . . . . . g.5823
CTCACAGAGCAGAAG | ACTCTGTGCACCGAGTTGACCGTAACAGACATCTTTGCTGCCTCC c.180
L T E Q K | T L C T E L T V T D I F A A S p.60
| 03 . . . . . . g.11090
AAG | AACACAACTGAGAAGGAAACCTTCTGCAGGGCTGCGACTGTGCTCCGGCAGTTCTAC c.240
K | N T T E K E T F C R A A T V L R Q F Y p.80
. . . . . . g.11150
AGCCACCATGAGAAGGACACTCGCTGCCTGGGTGCGACTGCACAGCAGTTCCACAGGCAC c.300
S H H E K D T R C L G A T A Q Q F H R H p.100
. . . . . . g.11210
AAGCAGCTGATCCGATTCCTGAAACGGCTCGACAGGAACCTCTGGGGCCTGGCGGGCTTG c.360
K Q L I R F L K R L D R N L W G L A G L p.120
| 04 . . . . . . g.13865
| AATTCCTGTCCTGTGAAGGAAGCCAACCAGAGTACGTTGGAAAACTTCTTGGAAAGGCTA c.420
| N S C P V K E A N Q S T L E N F L E R L p.140
. . . . g.13907
AAGACGATCATGAGAGAGAAATATTCAAAGTGTTCGAGCTGA c.462
K T I M R E K Y S K C S S X p.153
. . . . . . g.13967
atattttaatttatgagtttttgatagctttattttttaagtatttatatatttataact c.*60
. . g.13996
catcataaaataaagtatatatagaatct c.*89
(downstream sequence)
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