330988 RESULTS
MUTATIONS PSEN1 73640362 GRCh37/hg19 A G g.25630A> G g.42184A> G Exon 5 Point, Missense Coding Increased Aβ42 and Aβ42/Aβ40 ratio in cells and in vitro. Neuropathology consistent with AD, including abundant amyloid plaques and severe neurofibrillary tangle pa
MUTATIONS PSEN1 73640352 GRCh37/hg19 rs63750522 G A g.25620G> A g.42174G> A Exon 5 Point, Missense Coding Increased Aβ42/Aβ total ratio. Possible mislocalization of presenilin-1 protein; co-localization with tangles. M139I (G>A) Alzheimer's Disease: P
MUTATIONS PSEN1 73640352 GRCh37/hg19 rs63750522 G C g.25620G> C g.42174G> C Exon 5 Point, Missense Coding Increased Aβ42/Aβ total ratio. Possible mislocalization of presenilin-1 protein; co-localization with tangles. M139I (G>C) Alzheimer's Disease: P
MUTATIONS PSEN1 73640351 GRCh37/hg19 rs63751106 T C g.25619T> C g.42173T> C Exon 5 Point, Missense Coding Increased Aβ42/Aβ40 ratio and decreased Aβ (37 + 38 + 40) / (42 + 43), Aβ37/Aβ42, and Aβ38/Aβ42 ratios in cells. Unknown. A rat model carrying this muta
MUTATIONS PSEN1 73640351 GRCh37/hg19 rs63751106 T A g.25619T> A g.42173T> A Exon 5 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown. M139K Alzheimer's Disease: PathogenicAlzheimer's Disease This
MUTATIONS PSEN1 73640350 GRCh37/hg19 rs63751037 A G g.25618A> G g.42172A> G Exon 5 Point, Missense Coding Increased Aβ42/Aβ40, Aβ42/Aβ38, Aβ43/Aβ40, and Aβ2-40:Aβ40; decreased Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42, Aβ38/Aβ40, Aβ38/Aβ42, Aβ40/Aβ43, and A
MUTATIONS PSEN1 73640342 GRCh37/hg19 rs41345849 C G g.25610C> G g.42164C> G Exon 5 Point, Missense Coding In vitro assays showed a moderate decrease in both Aβ40 and Aβ42 production, with the Aβ42/Aβ40 ratio remaining roughly similar to wildtype. Neuroblastom
MUTATIONS PSEN1 73640339 GRCh37/hg19 rs63751278 A G g.25607A> G g.42161A> G Exon 5 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Neuropathology consistent with AD, including widespread neurofibrillary tangles a
MUTATIONS PSEN1 73640338 GRCh37/hg19 rs63750353 A G g.25606A> G g.42160A> G Exon 5 Point, Missense Coding Increased Aβ42/Aβ40 ratio in cell lines and in vitro; increases intracellular and secreted Aβ42 and decreases Aβ40 in cells; reduces both Aβ42 and Aβ40 p
MUTATIONS PSEN1 73640302 GRCh37/hg19 rs63750378 G A g.25570G> A g.42124G> A Exon 5 Point, Missense Coding In cells, effects on AICD, Aβ38, Aβ40, and Aβ42 were minimal, but increased Aβ43; in vitro, decreased Aβ40 and Aβ42 production, and elevated Aβ42/Aβ40 ra
MUTATIONS PSEN1 73640295 GRCh37/hg19 rs63751272 A C g.25563A> C g.42117A> C Exon 5 Point, Missense Coding Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells, indicating reduced γ-processivity. It also reduced total Aβ secretio
MUTATIONS PSEN1 73640294 GRCh37/hg19 A G g.25562A> G g.42116A> G Exon 5 Point, Missense Coding Decreased Aβ38 and Aβ40 production and Aβ38/Aβ42 ratio in patient brain sample. Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells,
MUTATIONS PSEN1 73640293 GRCh37/hg19 rs63750800 G A g.25561G> A g.42115G> A Exon 5 Point, Missense Coding Increased Aβ42/40 ratio in cells and in vitro. In cells, also increased Aβ42/Aβ total ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios. In vitro,
MUTATIONS PSEN1 73640285 GRCh37/hg19 rs63749805 C T g.25553C> T g.42107C> T Exon 5 Point, Missense Coding Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells; reduced ε-cleavage; Aβ49→Aβ46 and Aβ43→Aβ40 trimming. In addition, i
MUTATIONS PSEN1 73640285 GRCh37/hg19 rs63749805 C G g.25553C> G g.42107C> G Exon 5 Point, Missense Coding Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells, indicating reduced γ-processivity. Also, affected cell cycle in immo
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