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331007 RESULTS

MAPT P301T

MUTATIONS MAPT 44087754 GRCh37/hg19 rs63751438 C A g.123789C> A g.120968C> A Exon 10 Point, Missense Coding Unknown. Globular deposits composed of four-repeat tau in astrocytes and oligodendrocytes, characteristic of globular glial tauopathy. Neuron loss in f

MAPT N296del

MUTATIONS MAPT 44087739 GRCh37/hg19 rs63751392 AAT--- ΔN296 N296del Exon 10 Deletion Coding The N296del mutation has little or no effect on exon 10 splicing, but substantially reduces tau's ability to promote microtubule assembly and increases its aggregation

MAPT N296H

MUTATIONS MAPT 44087739 GRCh37/hg19 rs63750416 A C Exon 10 Point, Missense Coding This mutation increases the inclusion of exon 10 in tau mRNA and therefore increases the ratio of 4R/3R tau. It reduces tau's ability to promote tubulin polymerization and microt

MAPT N296N

MUTATIONS MAPT 44087741 GRCh37/hg19 rs63750912 T C Exon 10 Point, Silent Coding Increased inclusion of exon 10 in tau mRNA and thus increased the ratio of 4R/3R tau protein. Frontotemporal atrophy; Neuronal loss in the globus pallidus, substantia nigra, and locus c

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