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330913 RESULTS

PSEN1 V89L (G> T)

MUTATIONS PSEN1 73637682 GRCh37/hg19 rs63750815 G T g.22950G> T g.39504G> T Exon 4 Point, Missense Coding Decreased Aβ40 and Aβ42 production; increased Aβ42/Aβ40 ratio in vitro. Neurofibrillary tangles and neuritic plaques with dystrophic neurites correspondi

PSEN1 L85P

MUTATIONS PSEN1 73637671 GRCh37/hg19 rs63750599 T C g.22939T> C g.39493T> C Exon 4 Point, Missense Coding Increased Aβ42/Aβ40 ratio; increased Aβ42 in transfected cells. In vitro, decreased Aβ42 production and abrogated Aβ40 production. Neuropathological exam

PSEN1 V82L

MUTATIONS PSEN1 73637661 GRCh37/hg19 rs63749967 G C g.22929G> C g.39483G> C Exon 4 Point, Missense Coding Results were mixed. Although all indicated little or no change in Aβ42/Aβ40, one assay showed a robust increase in Aβ43 and a decrease in Aβ37, with a de

PSEN1 A79V

MUTATIONS PSEN1 73637653 GRCh37/hg19 rs63749824 C T g.22921C> T g.39475C> T Exon 4 Point, Missense Coding Increased  the Aβ42/Aβ40 ratio, and decreased the Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios in cells. Also, altered transcriptomic profiles in c

PSEN1 R35Q

MUTATIONS PSEN1 73637521 GRCh37/hg19 rs63750592 G A g.22789G> A g.39343G> A Exon 4 Point, Missense Coding Aβ profile very similar to wildtype PSEN1 in cell-based assays.   Unknown. R35Q Alzheimer's Disease: BenignAlzheimer's Disease, None Although t

PSEN1 N32N

MUTATIONS PSEN1 73637513 GRCh37/hg19 T C g.22781T> C g.39335T> C Exon 4 Point, Silent Coding Unknown. Unknown. N32N Alzheimer's Disease: Likely BenignAlzheimer's Disease, None This is a silent polymorphism, considered most likely not pathogenic. It

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