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330026 RESULTS

PSEN1 R358Q

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

PSEN1 R352dup

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

PSEN1 E318G

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

PSEN1 T291P

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

MAPT Q336R

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

PSEN1 L286P

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

PSEN1 A285V

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

PSEN1 P284L

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

PSEN1 P284S

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

PSEN1 L282R

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

PSEN1 L282F

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

PSEN1 L282V

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

PSEN1 E280G

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

PSEN1 E280A (Paisa)

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.

PSEN1 R278S

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

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