32185 RESULTS
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MUTATIONS PSEN1 73637712 GRCh37/hg19 A G Exon 4 Point, Missense Coding Three different assays yielded mixed results, but all suggested deleterious effects, including increased Aβ42/Aβ40 and decreased Aβ37/Aβ42 ratios. Unknown, but MRI showed atrophy of the parietal
MUTATIONS PSEN1 73640327 GRCh37/hg19 A G Exon 5 Point, Missense Coding Increased Aβ42/Aβ40 ratio in vitro. Also, abrogated pH-sensitivity of Aβ peptide generation in vitro. In silico algorithms predicted benign (Polyphen) and damaging (SIFT). Unknown, but PiB-PET
MUTATIONS PSEN1 73659459 GRCh37/hg19 T G Exon 7 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown, but brain imaging showed atrophy and reduced blood flow in temporal, parietal, and frontal lobes. Also, widesprea
MUTATIONS PSEN1 73653599 GRCh37/hg19 G T Exon 6 Point, Missense Coding Uncertain. Aβ37/Aβ42 ratio similar to control in one cell-based assay, but increased Aβ42/Aβ40 ratio in two assays. Aβ42 decreased in one assay, but increased in another. (One assays did not spe
MUTATIONS PSEN1 73637665 GRCh37/hg19 T C Exon 4 Point, Missense Coding Increased Aβ42/Aβ40 and decreased Aβ37/Aβ42. Unknown; MRI showed bilateral atrophy, especially in the parietal and temporal lobes in one case, and frontal and temporal atrophy in another. I83T A
MUTATIONS PSEN1 73659494 GRCh37/hg19 G C Exon 7 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown. A231P Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This mutation was identified by whole exom
MUTATIONS PSEN1 73683873 GRCh37/hg19 G A Exon 11 Point, Missense Coding Unknown. Unknown; MRI showed cerebral amyloid angiopathy. S390N Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This mutation was identified by whole exome sequencing in a Fren
MUTATIONS PSEN1 73659539 GRCh37/hg19 G C Exon 7 Point, Missense Coding Unknown; predicted probably damaging in silico. Neuropathology consistent with AD (Braak and Braak stage VI, CERAD C) as well as cerebral amyloid angiopathy. Some α-synuclein inclusions were obs
MUTATIONS PSEN1 73659518_73659519 GRCh37/hg19--- TAA I238_K239insI Exon 7 Insertion Coding Unknown; insertion of the trinucleotide TAA results in the insertion of one amino acid (isoleucine), but does not cause a frameshift. In silico this insertion is predicted to
MUTATIONS PSEN1 73637624 GRCh37/hg19 A T Exon 4 Point, Missense Coding No changes in either Aβ42/Aβ40 or Aβ37/Aβ40 ratios in 2 cell assays; in one assay both Aβ42 and Aβ40 were increased, in the other both were decreased. Unknown. E69D Alzheimer's Disease: N
MUTATIONS PSEN1 73637533-73637535 GRCh37/hg19 rs759538127 ACG--- Exon 4 Deletion Coding Decreased Aβ42 production and undetectable Aβ40 production in vitro. Does not cause a frame-shift. Unknown. D40del (delACG) Alzheimer's Disease: Uncertain SignificanceAlzhe
MUTATIONS PSEN1 73664807 GRCh37/hg19 G A Exon 8 Point, Missense Coding Unknown; predicted probably damaging in silico. Unknown; MRI showed generalized brain atrophy, including atrophy of the hippocampus. E280K Alzheimer's Disease: PathogenicAlzheimer's Di
MUTATIONS PSEN1 73683927 GRCh37/hg19 T C Exon 11 Point, Missense Coding Unknown; predicted damaging in silico. Unknown; MRI of two carriers showed termporal and hippocampal atrophy consistent with AD. CSF biomarkers consistent with AD and deficit in dopamine uptake
MUTATIONS PSEN1 73664768 GRCh37/hg19 C G Exon 8 Point, Missense Coding Decreased Aβ37/Aβ42, increased Aβ42/Aβ40, and increased Aβ43 in cultured cells. Frequent neuritic plaques, including in the neocortex (Braak stage VI); Severe cerebral amyloid angiopathy. P267A
MUTATIONS PSEN1 73659462 GRCh37/hg19 G C Exon 7 Point, Missense Coding Unknown; predicted to be damaging in silico (CADD score > 20). Unknown; MRI showed diffuse cortico-subcortical cerebral atrophy with multiple foci in the deep white matter. R220P Alzheimer�
