(used for mutation description)
(last modified July 9, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_000586.3 in the IL2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016779.1, covering IL2 transcript NM_000586.3.(upstream sequence) . . . . . g.5055 agttccctatcactctctttaatcactactcacagtaacctcaactcctgccaca c.-1 . . . . . . g.5115 ATGTACAGGATGCAACTCCTGTCTTGCATTGCACTAAGTCTTGCACTTGTCACAAACAGT c.60 M Y R M Q L L S C I A L S L A L V T N S p.20 . . . . . . g.5175 GCACCTACTTCAAGTTCTACAAAGAAAACACAGCTACAACTGGAGCATTTACTGCTGGAT c.120 A P T S S S T K K T Q L Q L E H L L L D p.40 . . | 02. . . . g.5325 TTACAGATGATTTTGAATGGAATTAAT | AATTACAAGAATCCCAAACTCACCAGGATGCTC c.180 L Q M I L N G I N | N Y K N P K L T R M L p.60 . . | 03. . . . g.7675 ACATTTAAGTTTTACATGCCCAAGAAG | GCCACAGAACTGAAACATCTTCAGTGTCTAGAA c.240 T F K F Y M P K K | A T E L K H L Q C L E p.80 . . . . . . g.7735 GAAGAACTCAAACCTCTGGAGGAAGTGCTAAATTTAGCTCAAAGCAAAAACTTTCACTTA c.300 E E L K P L E E V L N L A Q S K N F H L p.100 . . . . . | 04 . g.9642 AGACCCAGGGACTTAATCAGCAATATCAACGTAATAGTTCTGGAACTAAAG | GGATCTGAA c.360 R P R D L I S N I N V I V L E L K | G S E p.120 . . . . . . g.9702 ACAACATTCATGTGTGAATATGCTGATGAGACAGCAACCATTGTAGAATTTCTGAACAGA c.420 T T F M C E Y A D E T A T I V E F L N R p.140 . . . . g.9744 TGGATTACCTTTTGTCAAAGCATCATCTCAACACTGACTTGA c.462 W I T F C Q S I I S T L T X p.153 . . . . . . g.9804 taattaagtgcttcccacttaaaacatatcaggccttctatttatttaaatatttaaatt c.*60 . . . . . . g.9864 ttatatttattgttgaatgtatggtttgctacctattgtaactattattcttaatcttaa c.*120 . . . . . . g.9924 aactataaatatggatcttttatgattctttttgtaagccctaggggctctaaaatggtt c.*180 . . . . . . g.9984 tcacttatttatcccaaaatatttattattatgttgaatgttaaatatagtatctatgta c.*240 . . . . g.10026 gattggttagtaaaactatttaataaatttgataaatataaa c.*282 (downstream sequence)Legend:
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