330889 RESULTS
MUTATIONS PSEN1 73637730 GRCh37/hg19 T G g.22998T> G g.39552T> G Exon 4 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 secretion. Unknown.
MUTATIONS PSEN1 73637730 GRCh37/hg19 rs63750325 T A g.22998T> A g.39552T> A Exon 4 Point, Missense Coding Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells, indicating reduced γ-processivity. Also reduced total Aβ secretion.
MUTATIONS PSEN1 73637706 GRCh37/hg19 rs63750852 G T g.22974G> T g.39528G> T Exon 4 Point, Missense Coding MIxed experimental results, but a detailed analysis of Aβ peptide production in cells indicated a deleterious effect with a decrease in the Aβ37/Aβ42 rat
MUTATIONS PSEN1 73637697 GRCh37/hg19 rs63750831 G A g.22965G> A g.39519G> A Exon 4 Point, Missense Coding Decreased Aβ42 and Aβ40 production; Aβ42/Aβ40 and Aβ37/Aβ42 ratios similar to controls. Unknown. V94M Alzheimer's Disease: BenignAlzheimer's Di
MUTATIONS PSEN1 73637703 GRCh37/hg19 rs63750601 G T g.22971G> T g.39525G> T Exon 4 Point, Missense Coding In cultured cells, increased Aβ42/Aβ40 ratio and decreased Aβ37/Aβ42 ratio. Inhibited endopeptidase activity. Unknown, but MRI in two cases showed brain
MUTATIONS PSEN1 73637692 GRCh37/hg19 rs63751141 G C g.22960G> C g.39514G> C Exon 4 Point, Missense Coding Increased Aβ42/Aβ40 ratio, and Aβ42 and Aβ43 secretion in cells. Reduced Aβ37/Aβ42 ratio. Unknown. C92S Alzheimer's Disease: PathogenicAlzheimer
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
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
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
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
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
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
PAPER Michel PP, Toulorge D, Guerreiro S, Hirsch EC
PAPER Costandi M
PAPER Gräff J, Kahn M, Samiei A, Gao J, Ota KT, Rei D, Tsai LH
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