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RESEARCH MODELS A528T is a common variant of SORL1 that has been shown to associate with a slightly increased risk of AD (~15 percent) in people of European ancestry and to segregate with disease in some families. CRISPR/Cas9 gene editing was used to introduce the A528T
RESEARCH MODELS The PLCG2 gene encodes the enzyme phospholipase C gamma 2 (PLCγ2), a mediator of transmembrane signaling in microglia that acts downstream of TREM2. A rare missense variant in this gene, P522R, has been associated with reduced risks of Alzheimer’s disease
RESEARCH MODELS The PLCG2 gene encodes the enzyme phospholipase C gamma 2 (PLCγ2), a mediator of transmembrane signaling in microglia that acts downstream of TREM2. A rare missense variant in this gene, rs72824905 (P522R), is associated with a reduced risk of Alzheimer’s
MUTATIONS APP 27264154 GRCh37/hg19 A G Exon 17 Coding Unknown, but in silico analysis predicted damaging effect (PHRED-scaled CADD = 25.6). Unknown, but in one case MRI showed widespread cerebral microangiopathy consistent with CAA and CSVD. N698D Cerebral Amyloid
MUTATIONS APP 27269904 GRCh37/hg19 A T Exon 16 Coding Unknown, but predicted in silico to be deleterious. PHRED-scaled CADD = 33. Unknown, but in one case MRI revealed cerebral infarctions and leukoaraiosis and SWI showed microbleeds and amyloidosis. E682V Alzheime
MUTATIONS APOE 45411088 GRCh37/hg19 C T Exon 3 Coding Predicted to eliminate functional APOE expression. Q39Ter Alzheimer's Disease This variant, predicted to eliminate functional APOE expression, was identified in two heterozygotes in a search for loss-of-fun
MUTATIONS APOE 45408560_45410359 GRCh37/hg19 Promoter, Exon 1, Exon 2 Non-Coding Coding Predicted to eliminate APOE expression. g.45408560_45410359del Alzheimer's Disease This variant, predicted to abrogate synthesis of ApoE, was identified in heterozygous for
MUTATIONS APOE 45409904 GRCh37/hg19 rs923895447 T A Exon 2 Coding Predicted to eliminate functional ApoE expression. L8Ter Alzheimer's Disease This variant, predicted to eliminate functional APOE expression, was identified in heterozygous form in a search for
RESEARCH MODELS Triggering Receptor Expressed on Myeloid Cells 2 (TREM2) is a transmembrane receptor that modulates microglial activity and survival. A rare variant in TREM2, R47H, triples the risk of Alzheimer’s disease in heterozygous carriers. This knock-in model carr
RESEARCH MODELS Triggering Receptor Expressed on Myeloid Cells 2 (TREM2) is a transmembrane receptor that modulates microglial activity and survival. A rare variant in TREM2, R47H, triples the risk of Alzheimer’s disease in heterozygous carriers. This knock-in model carr
MUTATIONS PSEN1 73659506_73659508 GRCh37/hg19--- ATT Exon 7 Coding Unknown. Unknown, but MRI showed hippocampal atrophy and ventricular enlargement. PET revealed amyloid deposition throughout the cortex. L235dup Alzheimer's Disease: Not ClassifiedAlzheimer
MUTATIONS APP 27269890 GRCh37/hg19 A C Exon 16 Coding Unknown, but K687N (A>T) increased Ab40 and Ab42, and when mixed with wildtype Ab, generated large oligomers; highly toxic in cells. Reduced degradation by neprilysin. Unknown, but MRI showed brain atrophy an
MUTATIONS SORL1 121495978 GRCh37/hg19 rs375087515 T C Exon 46 Coding Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. Unknown. L2119P Alzheimer's Disease In a French cohort of 852 early onset Alzheimer’s cases, 927 late-onset case
MUTATIONS SORL1 121497884 GRCh37/hg19 rs10892761 T C Intron 46 Non-Coding c.6365-380T>C Alzheimer's Disease
MUTATIONS SORL1 121498340 GRCh37/hg19 rs146054968 A G Exon 47 Coding Unknown; predicted to be damaging by SIFT, but benign by Mutation Taster and PolyPhen-2. Unknown. I2147M Alzheimer's Disease The I2147M variant was identified in the European Early-Onset Deme
