(used for mutation description)
(last modified April 16, 2010)
This file was created to facilitate the description of sequence variants in the DPM3 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_012871.1, covering DPM3 transcript NM_153741.1. Intron 1 is not spliced in transcript variant-2 (NM_018973.3) and contains an alternative translation initiation site.Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence) . . . | 02 g.5280 cgcgcggggaaggggagacgtggggtagag | tgacc c.-1 altrnative splicing ^ T p.1-1 . . . . . . g.5340 ATGACGAAATTAGCGCAGTGGCTTTGGGGACTAGCGATCCTGGGCTCCACCTGGGTGGCC c.60 M T K L A Q W L W G L A I L G S T W V A p.20 . . . . . . g.5400 CTGACCACGGGAGCCTTGGGCCTGGAGCTGCCCTTGTCCTGCCAGGAAGTCCTGTGGCCA c.120 L T T G A L G L E L P L S C Q E V L W P p.40 . . . . . . g.5460 CTGCCCGCCTACTTGCTGGTGTCCGCCGGCTGCTATGCCCTGGGCACTGTGGGCTATCGT c.180 L P A Y L L V S A G C Y A L G T V G Y R p.60 . . . . . . g.5520 GTGGCCACTTTTCATGACTGCGAGGACGCCGCACGCGAGCTGCAGAGCCAGATACAGGAG c.240 V A T F H D C E D A A R E L Q S Q I Q E p.80 . . . g.5559 GCCCGAGCCGACTTAGCCCGCAGGGGGCTGCGCTTCTGA c.279 A R A D L A R R G L R F X p.92 . . . . . . g.5619 cagcctaaccccattcctgtgcggacagcccttcctcccatttcccattaaagagccagt c.*60 . g.5630 ttattttctaa c.*71 (downstream sequence)Legend:
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