(used for mutation description)
(last modified April 29, 2014)
This file was created to facilitate the description of sequence variants in the CD3G gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering CD3G transcript NM_000073.2.(upstream sequence) . . g.1047 agtctagctgctgcacaggc c.-61 . . . . . . g.1107 tggctggctggctggctgctaagggctgctccacgcttttgccggaggacagagactgac c.-1 . . . . . | 02 . g.5715 ATGGAACAGGGGAAGGGCCTGGCTGTCCTCATCCTGGCTATCATTCTTCTTCAAG | GTACT c.60 M E Q G K G L A V L I L A I I L L Q G | T p.20 . | 03 . . . . g.6467 TTGGCCCAGTCAATCAAAG | GAAACCACTTGGTTAAGGTGTATGACTATCAAGAAGATGGT c.120 L A Q S I K G | N H L V K V Y D Y Q E D G p.40 . . . . . . g.6527 TCGGTACTTCTGACTTGTGATGCAGAAGCCAAAAATATCACATGGTTTAAAGATGGGAAG c.180 S V L L T C D A E A K N I T W F K D G K p.60 . . . . . . g.6587 ATGATCGGCTTCCTAACTGAAGATAAAAAAAAATGGAATCTGGGAAGTAATGCCAAGGAC c.240 M I G F L T E D K K K W N L G S N A K D p.80 . . . . . . g.6647 CCTCGAGGGATGTATCAGTGTAAAGGATCACAGAACAAGTCAAAACCACTCCAAGTGTAT c.300 P R G M Y Q C K G S Q N K S K P L Q V Y p.100 | 04. . . . . . g.7288 TACAGAA | TGTGTCAGAACTGCATTGAACTAAATGCAGCCACCATATCTGGCTTTCTCTTT c.360 Y R M | C Q N C I E L N A A T I S G F L F p.120 . . . . . . g.7348 GCTGAAATCGTCAGCATTTTCGTCCTTGCTGTTGGGGTCTACTTCATTGCTGGACAGGAT c.420 A E I V S I F V L A V G V Y F I A G Q D p.140 . | 05 . . . . g.8352 GGAGTTCGCCAGTCGAGAG | CTTCAGACAAGCAGACTCTGTTGCCCAATGACCAGCTCTAC c.480 G V R Q S R A | S D K Q T L L P N D Q L Y p.160 | 06 . . . . . . g.9144 CAG | CCCCTCAAGGATCGAGAAGATGACCAGTACAGCCACCTTCAAGGAAACCAGTTGAGG c.540 Q | P L K D R E D D Q Y S H L Q G N Q L R p.180 g.9153 AGGAATTGA | c.550 R N X p.182 . | 07 . . . . g.9844 actcaggactcagagtag | tccaggtgttctcctcctattcagttcccagaatcaaagcaa c.*60 . . . . . . g.9904 tgcattttggaaagctcctagcagagagactttcagccctaaatctagactcaaggttcc c.*120 . . . . . . g.9964 cagagatgacaaatggagaagaaaggccatcagagcaaatttgggggtttctcaaataaa c.*180 . . . . . . g.10024 ataaaaataaaaacaaatactgtgtttcagaagcgccacctattggggaaaattgtaaaa c.*240 . . . . . . g.10084 gaaaaatgaaaagatcaaataaccccctggatttgaatataattttttgtgttgtaattt c.*300 . . . . . . g.10144 ttatttcgtttttgtataggttataattcacatggctcaaatattcagtgaaagctctcc c.*360 . . . . . . g.10204 ctccaccgccatcccctgctacccagtgaccctgttgccctcttcagagacaaattagtt c.*420 . . . . . . g.10264 tctcttttttttttttttttttttttttttgagacagtctggctctgtcacccaggctga c.*480 . . . . . . g.10324 aatgcagtggcaccatctcggctcactgcaacctctgcctcctgggttcaagcgattctc c.*540 . . . . . . g.10384 ctgcctcagcctcccgggcagctgggattacaggcacacactaccacacctggctaattt c.*600 . . . . . . g.10444 ttgtatttttagtagagacagggttttgctctgttggccaagctggtctcgaactcctga c.*660 . . g.10466 cctcaagtgatccgcccgcctc c.*682 (downstream sequence)Legend:
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