(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)Legend:
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