(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the ICOS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering ICOS transcript NM_012092.3.(upstream sequence) g.1024 cgagagc c.-61 . . . . . . g.1084 ctgaattcactgtcagctttgaacactgaacgcgaggactgttaactgtttctggcaaac c.-1 . . . . . | 02 g.19907 ATGAAGTCAGGCCTCTGGTATTTCTTTCTCTTCTGCTTGCGCATTAAAGTTTTAACAG | GA c.60 M K S G L W Y F F L F C L R I K V L T G | p.20 . . . . . . g.19967 GAAATCAATGGTTCTGCCAATTATGAGATGTTTATATTTCACAACGGAGGTGTACAAATT c.120 E I N G S A N Y E M F I F H N G G V Q I p.40 . . . . . . g.20027 TTATGCAAATATCCTGACATTGTCCAGCAATTTAAAATGCAGTTGCTGAAAGGGGGGCAA c.180 L C K Y P D I V Q Q F K M Q L L K G G Q p.60 . . . . . . g.20087 ATACTCTGCGATCTCACTAAGACAAAAGGAAGTGGAAACACAGTGTCCATTAAGAGTCTG c.240 I L C D L T K T K G S G N T V S I K S L p.80 . . . . . . g.20147 AAATTCTGCCATTCTCAGTTATCCAACAACAGTGTCTCTTTTTTTCTATACAACTTGGAC c.300 K F C H S Q L S N N S V S F F L Y N L D p.100 . . . . . . g.20207 CATTCTCATGCCAACTATTACTTCTGCAACCTATCAATTTTTGATCCTCCTCCTTTTAAA c.360 H S H A N Y Y F C N L S I F D P P P F K p.120 . . . | 03 . . . g.20954 GTAACTCTTACAGGAGGATATTTGCATATTTATG | AATCACAACTTTGTTGCCAGCTGAAG c.420 V T L T G G Y L H I Y E | S Q L C C Q L K p.140 . . . . . . g.21014 TTCTGGTTACCCATAGGATGTGCAGCCTTTGTTGTAGTCTGCATTTTGGGATGCATACTT c.480 F W L P I G C A A F V V V C I L G C I L p.160 . . | 04 . . . . g.22107 ATTTGTTGGCTTACAAAAAAG | AAGTATTCATCCAGTGTGCACGACCCTAACGGTGAATAC c.540 I C W L T K K | K Y S S S V H D P N G E Y p.180 . . . . | 05 . . g.23869 ATGTTCATGAGAGCAGTGAACACAGCCAAAAAATCTAGACTCACAG | ATGTGACCCTATAA c.600 M F M R A V N T A K K S R L T D | V T L X p.199 . . . . . . g.23929 tatggaactctggcacccaggcatgaagcacgttggccagttttcctcaacttgaagtgc c.*60 . . . . . . g.23989 aagattctcttatttccgggaccacggagagtctgacttaactacatacatcttctgctg c.*120 . . . . . . g.24049 gtgttttgttcaatctggaagaatgactgtatcagtcaatggggattttaacagactgcc c.*180 . . . . . . g.24109 ttggtactgccgagtcctctcaaaacaaacaccctcttgcaaccagctttggagaaagcc c.*240 . . . . . . g.24169 cagctcctgtgtgctcactgggagtggaatccctgtctccacatctgctcctagcagtgc c.*300 . . . . . . g.24229 atcagccagtaaaacaaacacatttacaagaaaaatgttttaaagatgccaggggtactg c.*360 . . . . . . g.24289 aatctgcaaagcaaatgagcagccaaggaccagcatctgtccgcatttcactatcatact c.*420 . . . . . . g.24349 acctcttctttctgtagggatgagaattcctcttttaatcagtcaagggagatgcttcaa c.*480 . . . . . . g.24409 agctggagctattttatttctgagatgttgatgtgaactgtacattagtacatactcagt c.*540 . . . . . . g.24469 actctccttcaattgctgaaccccagttgaccattttaccaagactttagatgctttctt c.*600 . . . . . . g.24529 gtgccctcaattttctttttaaaaatacttctacatgactgcttgacagcccaacagcca c.*660 . . . . . . g.24589 ctctcaatagagagctatgtcttacattctttcctctgctgctcaatagttttatatatc c.*720 . . . . . . g.24649 tatgcatacatatatacacacatatgtatataaaattcataatgaatatatttgcctata c.*780 . . . . . . g.24709 ttctccctacaagaatatttttgctccagaaagacatgttcttttctcaaattcagttaa c.*840 . . . . . . g.24769 aatggtttactttgttcaagttagtggtaggaaacattgcccggaattgaaagcaaattt c.*900 . . . . . . g.24829 attttattatcctattttctaccattatctatgttttcatggtgctattaattacaagtt c.*960 . . . . . . g.24889 tagttctttttgtagatcatattaaaattgcaaacaaaatcatctttaatgggccagcat c.*1020 . . . . . . g.24949 tctcatggggtagagcagaatattcatttagcctgaaagctgcagttactataggttgct c.*1080 . . . . . . g.25009 gtcagactatacccatggtgcctctgggcttgacaggtcaaaatggtccccatcagcctg c.*1140 . . . . . . g.25069 gagcagccctccagacctgggtggaattccagggttgagagactcccctgagccagaggc c.*1200 . . . . . . g.25129 cactaggtattcttgctcccagaggctgaagtcaccctgggaatcacagtggtctacctg c.*1260 . . . . . . g.25189 cattcataattccaggatctgtgaagagcacatatgtgtcagggcacaattccctctcat c.*1320 . . . . . . g.25249 aaaaaccacacagcctggaaattggccctggcccttcaagatagccttctttagaatatg c.*1380 . . . . . . g.25309 atttggctagaaagattcttaaatatgtggaatatgattattcttagctggaatattttc c.*1440 . . . . . . g.25369 tctacttcctgtctgcatgcccaaggcttctgaagcagccaatgtcgatgcaacaacatt c.*1500 . . . . . . g.25429 tgtaactttaggtaaactgggattatgttgtagtttaacattttgtaactgtgtgcttat c.*1560 . . . . . . g.25489 agtttacaagtgagacccgatatgtcattatgcatacttatattatcttaagcatgtgta c.*1620 . . . . . . g.25549 atgctggatgtgtacagtacagtactgaacttgtaatttgaatctagtatggtgttctgt c.*1680 . . . . . . g.25609 tttcagctgacttggacaacctgactggctttgcacaggtgttccctgagttgtttgcag c.*1740 . . . . . . g.25669 gtttctgtgtgtggggtggggtatggggaggagaaccttcatggtggcccacctggcctg c.*1800 . . . . . . g.25729 gttgtccaagctgtgcctcgacacatcctcatccccagcatgggacacctcaagatgaat c.*1860 . . . . . . g.25789 aataattcacaaaatttctgtgaaatcaaatccagttttaagaggagccacttatcaaag c.*1920 . . . . . g.25847 agattttaacagtagtaagaaggcaaagaataaacatttgatattcagcaactgaaaa c.*1978 (downstream sequence)Legend:
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