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331007 RESULTS

Bob Finn


MS Discovery Forum
Pleasant Hill, United States

MAPT G303V

MUTATIONS MAPT 44087761 GRCh37/hg19 rs63751391 G T g.123796G> T g.120975G> T Exon 10 Point, Missense Coding Unknown.   Mild frontal and temporal atrophy with neuronal loss, gliosis, enlarged lateral ventricles, and microvacuolation. Accumulated tau in neurons

MAPT P301L

MUTATIONS MAPT 44087755 GRCh37/hg19 rs63751273 C T g.123790C> T g.120969C> T Exon 10 Point, Missense Coding Strongly promotes β-sheet formation and accelerates the formation of paired helical filament; Does not affect exon 10 splicing. Tau aggregates consisti

MAPT P301S

MUTATIONS MAPT 44087754 GRCh37/hg19 rs63751438 C T Exon 10 Point, Missense Coding Recombinant tau protein with the P301S mutation showed a greatly impaired ability to promote microtubule assembly. Frontotemporal atrophy and extensive inclusions of hyperphosphorylat

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