MUTATIONS MAPT 44074023 GRCh37/hg19 rs63750376 G T g.110063G> T g.107237G> T Exon 9 Point, Missense Coding Mutant tau proteins are more favorable substrates for phosphorylation than wild-type tau. Severe frontotemporal lobe atrophy; Neuronal loss in hippocamp
MUTATIONS MAPT 44074018 GRCh37/hg19 rs11568305 G A g.110058G> A g.107232G> A Exon 9 Point, Silent Coding Unknown. Not applicable. P270P Frontotemporal Dementia: BenignNone This silent polymorphism was detected in healthy family members as well as at least one
MUTATIONS MAPT 44074006 GRCh37/hg19 G A g.110046G> A g.107220G> A Exon 9 Point, Silent Coding Unknown. Not applicable. L266L Frontotemporal Dementia: BenignNone This synonymous change was identified in one individual originating from Pakistan (Guerreiro et al
MUTATIONS MAPT 44074004 GRCh37/hg19 rs63750349 C G g.110044C> G g.107218C> G Exon 9 Point, Missense Coding Increased levels of exon 10+ tau mRNA and soluble four-repeat (4R) tau; Decreased rate and extent of tau-induced microtubule assembly; A 3R isoform-spec
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PAPER Foltynie T, Kahan J
J Neurol. 2013 May;260(5):1433-40. PubMed: 23589196