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329938 RESULTS

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

PSEN1 M233L (A> T)

MUTATIONS PSEN1 73659500 GRCh37/hg19 rs63751287 A T g.44716A> T g.61322A> T Exon 7 Point, Missense Coding Increased Aβ42 and decreased Aβ40 production, resulting in increased Aβ42/Aβ40 ratio in vitro. In cells, increased Aβ42/Aβ40 ratio, decreased total Aβ pr

PSEN1 M233V

MUTATIONS PSEN1 73659500 GRCh37/hg19 rs63751287 A G g.44716A> G g.61322A> G Exon 7 Point, Missense Coding Increased Aβ42/Aβ40 ratio and decreased Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios in cells.  In one case: neurofibrillary tangles and amyloid pl

PSEN1 M233L (A> C)

MUTATIONS PSEN1 73659500 GRCh37/hg19 rs63751287 A C g.44716A> C g.61322A> C Exon 7 Point, Missense Coding In vitro, increased Aβ42 production, decreased Aβ40 production; increased Aβ42:Aβ40 ratio. In cells, increased Aβ42 and Aβ43, decreased total Aβ producti

PSEN1 A231V

MUTATIONS PSEN1 73659495 GRCh37/hg19 rs63750799 C T g.44711C> T g.61317C> T Exon 7 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown A231V Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Th

PSEN1 A231T

MUTATIONS PSEN1 73659494 GRCh37/hg19 rs63749836 G A g.44710G> A g.61316G> A Exon 7 Point, Missense Coding Decreased Aβ37/Aβ42; Aβ42/Aβ40 mixed results. Decreased production of all Aβ peptides. Unknown A231T Alzheimer's Disease: Likely PathogenicAlzheimer

PSEN1 I229F

MUTATIONS PSEN1 73659488 GRCh37/hg19 rs63749970 A T g.44704A> T g.61310A> T Exon 7 Point, Missense Coding In vitro, increased Aβ42 production and reduced Aβ40; increased Aβ42/Aβ40 ratio Unknown I229F Alzheimer's Disease: Not ClassifiedAlzheimer's Di

PSEN1 L226R

MUTATIONS PSEN1 73659480 GRCh37/hg19 rs63749961 T G g.44696T> G g.61302T> G Exon 7 Point, Missense Coding Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. Neuropathology consistent with AD in one individual, including numer

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