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PSEN1 P355S

MUTATIONS PSEN1 73678584 GRCh37 (105) rs376433615 C T Exon 10 Point, Missense Coding Unknown, but cryo-EM data suggest perturbation of γ-secretase catalytic activity. Unkonwn, but MRI revealed microbleeds in cortex, basal ganglia, and subcortical white matter ...

PSEN1 W294Ter

MUTATIONS 73673106 GRCh37 (105) G A PSEN1 Exon 9 Point, Nonsense Coding Unknown, but 3D in silico modeling predicted pronounced structural effects. Unknown, but MRI of two carriers showed white matter and subcortical lesions, and a third carrier had lesions in the ...

PSEN1 A260G

MUTATIONS PSEN1 73664748 GRCh37 (105) C G Exon 8 Point, Missense Coding Unknown Unknown, but CSF bimoarkers were consistent with AD in two patients and MRI revealed mild cortical and hippocampal atrophy in one patient and signs of CAA in two patients.  A260G ...

Psen1 L435F knock-in

RESEARCH MODELS Summary The L435F mutation in PSEN1 was found in affected individuals in a family with early onset AD (Heilig et al., 2010). This knock-in rat model carries the homologous mutation in the rat Psen1 gene and a humanized Aβ sequence within the rat App gene ...

Trem2 R47H knock-in

RESEARCH MODELS Summary R47H is a rare variant in TREM2 that triples the risk of Alzheimer’s disease in heterozygous carriers. This knock-in rat model carries the R47H mutation in the rat Trem2 gene and a humanized Aβ sequence within the rat App gene (Tambini and D ...

App knock‐in (Icelandic mutation and humanized Aβ)

RESEARCH MODELS Summary The A673T (“Icelandic”) mutation in APP is associated with protection against Alzheimer's disease and age-related cognitive decline. This knock-in rat model carries the Icelandic mutation and a humanized Aβ sequence within the endogenous rat ...

App knock‐in (Swedish mutation and humanized Aβ)

RESEARCH MODELS Summary The KM670/671NL (“Swedish”) double mutation in APP was linked to AD in two large Swedish pedigrees. The mutation is located immediately adjacent to the β-secretase site and results in increased β-secretase processing of APP (Cai et al., 1993; Rabe ...

App knock-in (humanized Aβ)

RESEARCH MODELS Summary This knock-in model carries a humanized Aβ sequence within the endogenous rat App gene (Tambini et al., 2019). Levels of App mRNA in brain were similar in 21-day-old rats homozygous for the humanized App gene (App h/h) and wild-type animals (App w ...

PSEN1 A285S

MUTATIONS PSEN1 73664822 GRCh37 (105) G T Exon 8 Point, Missense Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and tolerable (SIFT). CADD score = 25.9. Unknown, but in one case, PiB-PET was positive, MRI revealed bilateral ...

PSEN1 Y159C

MUTATIONS 73640411 GRCh37 (105) rs778630379 A G PSEN1 Exon 5 Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerated (SIFT). Cryo-EM suggests structural role in PSEN1-APP interaction. CADD score = 28.3. Unknown, but in one ...

PSEN1 Y389H

MUTATIONS PSEN1 73683869 GRCh37 (105) T C Exon 11 Point, Missense Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerable/damaging (SIFT). CADD score = 26.9. Unknown, but in two cases, amyloid-PET was positive. MRI ...

PSEN1 L282P

MUTATIONS PSEN1 Chr14:73664814 GRCh37 (105) T C Exon 8 Point, Missense Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerated (SIFT). CADD score = 28.5 Unknown, but in one patient, MRI revealed mild, diffuse cortical ...

PSEN1 Y389S

MUTATIONS PSEN1 73683870 GRCh37 (105) A C Exon 11 Point, Missense Coding Unknown, but predicted probably damaging by in silico algorithms Polyphen2 and SIFT. CADD score = 26.8. Unknown, but one case had Aβ accumulation (PiB-PET+), with mild, diffuse cortical ...

PSEN2 K82fs

MUTATIONS 227071509 GRCh37 (105) AA-- PSEN2 Exon 4 Deletion Coding Frameshift starting at K82; reduced mutant protein in frontal cortex and hippocampus. Neuropathology consistent with Pick's disease. K82fs Tauopathy consistent with Pick's Disease: Unclear ...

PSEN2 G359fs (Intron 11/12 delAG)

MUTATIONS 227081706 GRCh37 (105) AG-- PSEN2 Intron 11/12 Deletion Non-Coding Coding Deletion of an adenine in intron 11/12 resulting in exon 12 skipping and a frameshift starting at codon G359; new termination codon in the 3' UTR. Unknown. G359fs (Intron 11/12 ...

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