31772 RESULTS
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MUTATIONS APOE 45411803 GRCh37/hg19 G T Exon 4 Coding Predicted to abrogate ApoE full-length synthesis introducing an early stop codon. Consistent with progressive supranuclear palsy with neurofibrillary tangles. E84Ter Progressive Supranuclear PalsyProgressive Sup
RESEARCH MODELS Overview This knock-in (KI) mouse model was generated by introducing a R1441C missense mutation into the GTPase domain at exon 31 of the mouse Lrrk2 (leucine-rich repeat kinase 2) gene (Tong et al., 2009). As such, this mutation is expressed through the c
MUTATIONS PSEN1 73685894 GRCh37/hg19 C T Exon 12 Coding Unknown, but predicted deleterious (PHRED-scaled CADD score = 28.7) A434V Alzheimer's Disease: Not ClassifiedAlzheimer's Disease, Posterior Cortical Atrophy This variant was identified in a 52-year-o
RESEARCH MODELS Summary MAPT 10IVS+16 C>T mice are among a series of models developed by Michael Koob and colleagues at the University of Minnesota, collectively referred to as Gene Replacement – Alzheimer’s Disease (GR-AD) mice. In GR-AD mice, “genes of interest are
RESEARCH MODELS Summary MAPT(H1.0)-GR mice are among a series of models developed by Michael Koob and colleagues at the University of Minnesota, collectively referred to as Gene Replacement – Alzheimer’s Disease (GR-AD) mice. In GR-AD mice, “genes of interest are precise
MUTATIONS PSEN2 227071564 GRCh37/hg19 rs200801915 C T Exon 5 Coding Unknown, but predicted benign in silico (PHRED-scaled CADD score = 6.52). Unknown. I100I Alzheimer's Disease: Likely BenignLate-onset This variant was reported in a preprint that analyzed data
MUTATIONS PSEN1 73685872 GRCh37/hg19 rs1398951357 A G Exon 12 Coding Unknown, but predicted in silico to be damaging (PHRED-scaled CADD score = 20.3). Unknown. I427V Alzheimer's Disease: Uncertain SignificanceAlzheimer's Disease This variant was reported
MUTATIONS PSEN1 73659479 GRCh37/hg19 C G Exon 7 Coding Unknown, but in silico algorithm predicted a damaging effect (PHRED-scaled CADD = 28). Unknown, but imaging in one case showed a posterior gradient of atrophy including the hippocampus; white matter alterations
MUTATIONS PSEN1 73659462 GRCh37/hg19 rs763831389 G A Exon 7 Coding Unknown, but in silico algorithms predicted a damaging effect (PHRED-scaled CADD = 22.9). Unknown. R220Q Alzheimer's Disease: Uncertain SignificanceAlzheimer's Disease This variant was rep
MUTATIONS MAPT 44087669 GRCh37/hg19 A T Intron 9 Non-Coding Alters the splice site resulting in more frequent inclusion of exon 10 into mRNA transcripts. Neuronal loss, gliosis, and accumulation of 4R tau in multiple brain areas including the temporal lobe, amygdal
MUTATIONS PSEN2 227083237 GRCh37/hg19 rs201922151 G A Exon 13 Coding Unknown, but in silico algorithms predict damaging (PHRED-scaled CADD = 22.1). Unknown. R435Q Alzheimer's Disease: Uncertain SignificanceAlzheimer's Disease This variant was reported in
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 Summary 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
MUTATIONS PSEN1 73653606 GRCh37/hg19 T G Exon 6 Coding Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. Atrophy of the hippocampus, parahippocampal cortex, and head of the caudate nucleus. Aβ plaques, tau-immunopositive neurons,
MUTATIONS PSEN1 73667926_73673647 GRCh37/hg19 Exon 9, Introns 8 and 9 Non-Coding Coding Unknown, but other Δ9 mutations result in increased Aβ42/Aβ40 ratio and decreased Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios. They also disrupt multiple cellular functio
