MUTATIONS PSEN1 73664757 GRCh37/hg19 rs63751102 G T g.49973G> T g.66579G> T Exon 8 Point, Missense Coding Increased Aβ43 and the Aβ42/Aβ40 ratio; decreased Aβ38, Aβ40, and Aβ42. Unknown. AD-like CSF levels of Aβ40, Aβ42, Aβ43, tau, and phospho-tau in 3 of 4 c
MUTATIONS MAPT 44061023 GRCh37/hg19 rs62063786 G A g.97063G> A g.94237G> A Exon 4a Point, Missense Coding Unknown. Unknown. D285N Frontotemporal Dementia: Benign, Other Tauopathy: Incomplete PenetranceProgressive Supranuclear Palsy, None This variant was firs
MUTATIONS PSEN1 73664756 GRCh37/hg19 rs63750543 T C g.49972T> C g.66578T> C Exon 8 Point, Missense Coding Decreased Aβ40 and Aβ42 production and increased Aβ42/Aβ40 ratio in vitro. Neuropathology consistent with AD. C263R Alzheimer's Disease: PathogenicA
MUTATIONS PSEN1 73664755 GRCh37/hg19 rs63750248 G C g.49971G> C g.66577G> C Exon 8 Point, Missense Coding Increased Aβ42/Aβ40 ratio in vitro, exhibiting a moderate increase in Aβ42 production, and a decrease in Aβ40 production. A brain biopsy from one case &q
PAPER Higgins JJ, Adler RL, Loveless JM
Neurology. 1999 Oct 22;53(7):1421-4. PubMed: 10534245
PAPER Steg A, Benoit G, Limouzin-Lamotte A, Mahoudeau J, Caillens M, Raichvarg D
Nouv Presse Med. 1979 Nov 26;8(46):3801-2. PubMed: 534245
MUTATIONS PSEN1 73664750 GRCh37/hg19 rs63750964 G T g.49966G> T g.66572G> T Exon 8 Point, Missense Coding Increased Aβ43 production (prevailing Aβ species) in cells. Decreased Aβ42 and Aβ40 production, and increased Aβ42/Aβ40 ratio in vitro. Also, abolished a
MUTATIONS PSEN1 73664750 GRCh37/hg19 G C g.49966G> C g.66572G> C Exon 8 Point, Missense Coding Unknown, but multiple in silico algorithms predicted it is deleterious Unknown, but MRI showed cortical and subcortical atrophy, and SPECT revealed temporal hyperpe
MUTATIONS PSEN1 73664748 GRCh37/hg19 rs63751420 C T g.49964C> T g.66570C> T Exon 8 Point, Missense Coding Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. Reduced production of Aβ40 and Aβ42, disrupted APP intracellular dis
MUTATIONS PSEN1 73659570 GRCh37/hg19 rs63751320 A C g.44786A> C g.61392A> C Exon 7 Point, Missense Coding Increased Aβ40 and Aβ42 in frontal cortex of one case. In cells, increased Aβ42 and Aβ43. In vitro, decreased production of Aβ42 and Aβ40, increased Aβ42
MUTATIONS PSEN1 73659552 GRCh37/hg19 rs63751163 T C g.44768T> C g.61374T> C Exon 7 Point, Missense Coding In vitro, decreases Aβ40 and Aβ42 production; increases Aβ42/Aβ40 ratio. Neuropathology consistent with AD in two cases. L250S Alzheimer's Disease:
MUTATIONS PSEN1 73659551 GRCh37/hg19 rs63750634 T G g.44767T> G g.61373T> G Exon 7 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown, but MRI showed diffuse cerebral atrophy and SPECT showed severe cortical
MUTATIONS PSEN1 73659546 GRCh37/hg19 T G g.44762T> G g.61368T> G Exon 7 Point, Missense Coding Increased Aβ42/Aβ40 ratio, decreased Aβ37/Aβ42 ratio. Production of all Aβ peptides was decreased. Unknown; in one case, neuroimaging showed prominent atrophy in th
MUTATIONS PSEN1 73659540 GRCh37/hg19 rs63750526 C A g.44756C> A g.61362C> A Exon 7 Point, Missense Coding Increased Aβ42 and Aβ43 secretion, Aβ42/Aβ40 ratio, Aβ42/Aβ total ratio. Decreased production of Aβ40 and Aβ42 in vitro. Disrupts endosomes via accumulat
MUTATIONS PSEN1 73659536 GRCh37/hg19 rs63750888 A C g.44752A> C g.61358A> C Exon 7 Point, Missense Coding Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. Unknown, but MRI showed diffuse brain atrophy in one patient, and no