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329930 RESULTS

PSEN1 A260V

MUTATIONS PSEN1 73664748 GRCh37/hg19 rs63751420 C T g.49964C> T g.66570C> T Exon 8 Point, Missense Coding Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. Reduced production of Aβ40 and Aβ42, disrupted APP intracellular dis

PSEN1 Y256S

MUTATIONS PSEN1 73659570 GRCh37/hg19 rs63751320 A C g.44786A> C g.61392A> C Exon 7 Point, Missense Coding Increased Aβ40 and Aβ42 in frontal cortex of one case. In cells, increased Aβ42 and Aβ43. In vitro, decreased production of Aβ42 and Aβ40, increased Aβ42

PSEN1 L250S

MUTATIONS PSEN1 73659552 GRCh37/hg19 rs63751163 T C g.44768T> C g.61374T> C Exon 7 Point, Missense Coding In vitro, decreases Aβ40 and Aβ42 production; increases Aβ42/Aβ40 ratio. Neuropathology consistent with AD in two cases. L250S Alzheimer's Disease:

PSEN1 L250V

MUTATIONS PSEN1 73659551 GRCh37/hg19 rs63750634 T G g.44767T> G g.61373T> G Exon 7 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown, but MRI showed diffuse cerebral atrophy and SPECT showed severe cortical

PSEN1 L248R

MUTATIONS PSEN1 73659546 GRCh37/hg19 T G g.44762T> G g.61368T> G Exon 7 Point, Missense Coding Increased Aβ42/Aβ40 ratio, decreased Aβ37/Aβ42 ratio. Production of all Aβ peptides was decreased. Unknown; in one case, neuroimaging showed prominent atrophy in th

PSEN1 A246E

MUTATIONS PSEN1 73659540 GRCh37/hg19 rs63750526 C A g.44756C> A g.61362C> A Exon 7 Point, Missense Coding Increased Aβ42 and Aβ43 secretion, Aβ42/Aβ40 ratio, Aβ42/Aβ total ratio. Decreased production of Aβ40 and Aβ42 in vitro. Disrupts endosomes via accumulat

PSEN1 T245P

MUTATIONS PSEN1 73659536 GRCh37/hg19 rs63750888 A C g.44752A> C g.61358A> C Exon 7 Point, Missense Coding Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. Unknown, but MRI showed diffuse brain atrophy in one patient, and no

PSEN1 K239N

MUTATIONS PSEN1 73659520 GRCh37/hg19 G C g.44736G> C g.61342G> C Exon 7 Point, Missense Coding In cells, Aβ42 and Aβ42/Aβ40 were increased. However, Aβ40 and Aβ42 production was undetectable in an assay using isolated proteins. Also, cell survival pathways pr

PSEN1 I238M

MUTATIONS PSEN1 73659517 GRCh37/hg19 C G g.44733C> G g.61339C> G Exon 7 Point, Missense Coding Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio.  Unknown; MRI showed progressive cerebral atrophy. PET showed hypometabolism in

PSEN1 F237L

MUTATIONS PSEN1 73659512 GRCh37/hg19 rs63750858 T C g.44728T> C g.61334T> C Exon 7 Point, Missense Coding Decreased Aβ37/Aβ42 ratio; Aβ42/Aβ40 ratio similar to wildtype. Decreased levels of Aβ43, Aβ42, Aβ40. Unknown, but in one carrier CSF AD biomarkers were

PSEN1 F237I

MUTATIONS PSEN1 73659512 GRCh37/hg19 rs63750858 T A g.44728T> A g.61334T> A Exon 7 Point, Missense Coding Decreased Aβ37/Aβ42 ratio; Aβ42/Aβ40 ratio similar to wildtype. Decreased levels of Aβ43, Aβ42, Aβ40. Unknown, but in proband, PET and SPECT revealed hyp

PSEN1 L235P

MUTATIONS PSEN1 73659507 GRCh37/hg19 rs63749835 T C g.44723T> C g.61329T> C Exon 7 Point, Missense Coding In transgenic mice, increased production of Aβ, increased tau hyperphosphorylation, and loss of synaptic protein. In cells, decreased Aβ (37 + 38 + 40) /

PSEN1 L235V

MUTATIONS PSEN1 73659506 GRCh37/hg19 rs63751130 C G g.44722C> G g.61328C> G Exon 7 Point, Missense Coding Modestly decreased Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios in cells, and increased Aβ42/Aβ40 in cells but not in vitro; deleterious effect on

PSEN1 M233I (G> C)

MUTATIONS PSEN1 73659502 GRCh37/hg19 rs63751479 G C g.44718G> C g.61324G> C Exon 7 Point, Missense Coding Decreased the Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios; increased Aβ42/Aβ40 in two cell-based assays (nucleotide change unspecified). Neuropath

PSEN1 M233T

MUTATIONS PSEN1 73659501 GRCh37/hg19 rs63751024 T C g.44717T> C g.61323T> C Exon 7 Point, Missense Coding Increased Aβ42, Aβ48, and Aβ39; Decreased Aβ38, Aβ40, Aβ43, and Aβ46. Neuropathology consistent with AD in at least one case. This mutation has been intr

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