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P1–070: Bioinformatics meets biology: Predicting the role of DNA‐sequence variants on micro‐RNA function
Author(s) -
Schilling Marcel,
Ansaloni Sara,
Schröder Julia,
Bertram Lars
Publication year - 2013
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2013.05.291
Subject(s) - dbsnp , biology , single nucleotide polymorphism , 1000 genomes project , genome wide association study , genetics , computational biology , microrna , human genome , genome , reference genome , gene , genotype
APP Gly708Gly GGC->GGT Silent mutation, not pathogenic Our findings Balb inet al. 1992 Val715Met GTG->ATG Pathogenic EOAD mutation Park et al. 2008 PSEN1 Thr116Ile AAC->ATC Novel in Korea, described in Europe before. Pathogenic mutation, associated with EOAD Our findings LaBella et al. 2004 Met139Ile ATG->ATC Pathogenic EOAD mutation Kim et al. 2010 His163Arg CAT->CGT Pathogenic EOAD mutation Hong et al. 1997 His163Pro CAT->CCT Novel mutation, associated with sporadic EOAD Published in 2012 (Neuroscience Letters) Gly206Ser GGT->AGT Pathogenic EOAD mutation Park et al. 2008 Pro208Pro CCA->CCG Silent mutation, not pathogenic Our findings Met233Thr ATG->ACG Pathogenic EOAD mutation Park et al. 2008 PSEN2 His87His CAC->CAT Silent mutation, very common polymorphism. Our findings Kamimuraet al. 1998 Val214Leu GTG->TTG Novel, first missense PSEN2 mutation in Asia. Pathogenic mutation. Our findings, sent out for publication Poster Presentations: P1 P178