MUTATIONS PSEN1 73678594 GRCh37/hg19 rs63751174 G A g.63804G> A g.80416G> A Exon 10 Point, Missense Coding Decreased Aβ40 and Aβ42 production and increased Aβ42/Aβ40 ratio in vitro. in cells, increased Aβ40 and Aβ42 secretion, with no significant change in th
MUTATIONS PSEN1 73678576_73678577 GRCh37/hg19 rs63750762--- CGC g.63786_63787insTCG g.80398_80399insTCG Exon 10 Insertion Coding In-frame insertion of 3 nucleotides in exon 10 resulting in insertion of an arginine between amino acids R352 and S353. Aβ CSF and plasm
MUTATIONS PSEN1 73673178 GRCh37/hg19 rs17125721 A G g.58389A> G g.75001A> G Exon 9 Point, Missense Coding Most data indicate no effect on Aβ42/Aβ40, Aβ (37 + 38 + 40) / (42 + 43), and Aβ37/Aβ42 ratios. Mixed results. Some carriers have AD neuropatholgy, but s
MUTATIONS PSEN1 73673096 GRCh37/hg19 rs63750298 A C g.58306A> C g.74918A> C Exon 9 Point, Missense Coding In cells, this mutation increased both Aβ40 and Aβ42, causing an overall increase in the Aβ42/Aβ40 ratio. However, in an in vitro assay, it dramatically
MUTATIONS MAPT 44095993 GRCh37/hg19 rs63750573 A G g.132037A> G g.129217A> G Exon 12 Point, Missense Coding Increases tau fibrillogenesis. In contrast to most MAPT missense mutations, Q336R increases, rather than decreases, mutant tau's ability to promot
MUTATIONS PSEN1 73664826 GRCh37/hg19 T C g.50042T> C g.66648T> C Exon 8 Point, Missense Coding Decreased Aβ37, Aβ38, Aβ39, and Aβ42 in patient CSF; increased Aβ15 and Aβ20. Increased Aβ42/43 amyloid production in cultured cells; reduced production rates of Aβ
MUTATIONS PSEN1 73664823 GRCh37/hg19 rs63751139 C T g.50039C> T g.66645C> T Exon 8 Point, Missense Coding Aβ40 and Aβ42 levels similar to controls in CSF of one patient. In cells, Aβ42 production elevated compared to Aβ40 and Aβ38 production. In vitro, both A
MUTATIONS PSEN1 73664820 GRCh37/hg19 rs63750863 C T Exon 8 Point, Missense Coding Unknown, but several in silico algorithms predict it is damaging. Prominent cotton-wool plaques in the cerebral cortex, basal ganglia, brainstem, and spinal cord. Some dense core plaq
MUTATIONS PSEN1 73664819 GRCh37/hg19 rs63750324 C T g.50035C> T g.66641C> T Exon 8 Point, Missense Coding Aβ40 and Aβ42 production was similar to wild-type PSEN1 in vitro. Unknown, but in 4 family members, MRI revealed widespread white-matter lesions, with lo
MUTATIONS PSEN1 73664814 GRCh37/hg19 rs63750050 T G g.50030T> G g.66636T> G Exon 8 Point, Missense Coding Decreased Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios and increased Aβ43. The Aβ42/Aβ40 ratio was increased or unchanged. Neuropathology consisten
MUTATIONS PSEN1 73664813 GRCh37/hg19 C T g.50029C> T g.66635C> T Exon 8 Point, Missense Coding Although Aβ42/Aβ40 was similar to controls, Aβ37/Aβ42 was decreased and Aβ43 levels were increased in a cell-based assay. Unknown; MRI showed mild medial temporal a
MUTATIONS PSEN1 73664813 GRCh37/hg19 rs63749937 C G g.50029C> G g.66635C> G Exon 8 Point, Missense Coding Increased Aβ42/Aβ40 ratio and decreased Aβ37/Aβ42 ratio in cells. In vitro, Aβ42 and Aβ40 production, as well as Aβ42/Aβ40 ratio, similar to wild-type. I
MUTATIONS PSEN1 73664808 GRCh37/hg19 rs63750231 A G g.50024A> G g.66630A> G Exon 8 Point, Missense Coding Increased Aβ42/Aβ40 ratio in cells and in vitro. Aβ42 secretion was increased in cells, but production of both Aβ42 and Aβ40 was reduced in vitro, as was
MUTATIONS PSEN1 73664808 GRCh37/hg19 rs63750231 A C g.50024A> C g.66630A> C Exon 8 Point, Missense Coding In cells, increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios. Activation of chaperone-mediated autophagy.
MUTATIONS PSEN1 73664803 GRCh37/hg19 rs63750524 A C g.50019A> C g.66625A> C Exon 8 Point, Missense Coding Unknown, but multiple in silico algorithms predicted it is damaging. Unknown R278S Alzheimer's Disease: Not ClassifiedAlzheimer's Disease, Spas