PAPER Doré V, Villemagne VL, Bourgeat P, Fripp J, Acosta O, Chetélat G, Zhou L, Martins R, Ellis KA, Masters CL, Ames D, Salvado O, Rowe CC
SEARCH RESULTS
330988 RESULTS
MAPT Q230R
MUTATIONS MAPT 44060859 GRCh37/hg19 rs63750072 A G g.96899A> G g.94073A> G Exon 4a Point, Missense Coding Unknown. Not applicable. Q230R Frontotemporal Dementia: Benign, Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease, None This varian
MAPT P202L
MUTATIONS MAPT 44060775 GRCh37/hg19 rs63750417 C T g.96815C> T g.93989C> T Exon 4a Point, Missense Coding Unknown. Not applicable. P202L Frontotemporal Dementia: BenignNone This variant in exon 4a of MAPT is thought to be benign. Originally described accordin
MAPT G86S
MUTATIONS MAPT 44051786 GRCh37/hg19 rs63751135 G A g.87825G> A g.84999G> A Exon 3 Point, Missense Coding No effect on normal splicing of exons 2 or 3; Creation of a predicted phosphorylation site and a predicted O-glycosylation site. Frontal hypometabolism by
MAPT V75A
MUTATIONS MAPT 44051754 GRCh37/hg19 T C g.12051T> C g.84967T> C Exon 3 Point, Missense Coding Unknown, but in silico algorithm did not reach deleteriousness threshold (PHRED-scaled CADD = 13.34). Frontotemporal atrophy and fronto-mesial and parietal left hypo
MAPT T39T
MUTATIONS MAPT 44039820 GRCh37/hg19 rs63750529 G A g.75859G> A g.73033G> A Exon 1 Point, Silent Coding Unknown. Unknown. T39T Frontotemporal Dementia: Unclear PathogenicityNone This silent mutation was identified while screening MAPT in three sets of patient
MAPT T30A
MUTATIONS MAPT 44039791 GRCh37/hg19 A G g.75830A> G g.73004A> G Exon 1 Point, Missense Coding Unknown. Not applicable. T30A Frontotemporal Dementia: BenignNone This polymorphism was identified in one individual from the Bantu Setswana population originating i
PSEN1 L219F
MUTATIONS PSEN1 73659458 GRCh37/hg19 rs63749987 C T g.44674C> T g.61280C> T Exon 7 Point, Missense Coding Decreased Aβ40; increased Aβ42 and the Aβ42/Aβ40 ratio in vitro. Unknown L219F Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This vari
PSEN1 G217D
MUTATIONS PSEN1 73659453 GRCh37/hg19 rs63750444 G A g.44669G> A g.61275G> A Exon 7 Point, Missense Coding Decreased Aβ37/Aβ42 ratio; increased Aβ42/Aβ40. Increased Aβ43 and decreased Aβ37 production. Cotton wool plaques in the cortex, caudate nucleus, putamen
PSEN1 G217R
MUTATIONS PSEN1 73659452 GRCh37/hg19 G C g.44668G> C g.61274G> C Exon 7 Point, Missense Coding Increased Aβ42/Aβ40 in two cell-based assays; decreased Aβ37/Aβ42 in iPSC-derived neurons. Cotton wool plaques. G217R Alzheimer's Disease: Likely PathogenicAl
PSEN1 H214Y
MUTATIONS PSEN1 73659443 GRCh37/hg19 rs63751003 C T g.44659C> T g.61265C> T Exon 7 Point, Missense Coding Increased Aβ42/Aβ40 and decreased Aβ37/Aβ42 in cultured cells. Unknown; imaging showed cortical atrophy, in one case more prominently in the left hemisph
PSEN1 H214D
MUTATIONS PSEN1 73659443 GRCh37/hg19 C G g.44659C> G g.61265C> G Exon 7 Point, Missense Coding Decreased Aβ37/Aβ42 ratio; Aβ42/Aβ40 similar or greater than that of controls. Reduced production of Aβ37, Aβ38, Aβ39, Aβ40, and Aβ42 peptides, but not Aβ43. Unkno
PSEN1 I213T
MUTATIONS PSEN1 73659441 GRCh37/hg19 rs63751039 T C g.44657T> C g.61263T> C Exon 7 Point, Missense Coding Decreased short (Aβ38, Aβ40, and Aβ42), and increased long (Aβ43, Aβ45, Aβ46+) Aβ peptides in cell lysates and knockin mouse brains. Increased Aβ42/Aβ4
PSEN1 I213F
MUTATIONS PSEN1 73659440 GRCh37/hg19 rs63750861 A T g.44656A> T g.61262A> T Exon 7 Point, Missense Coding Increased Aβ40 and Aβ42 secretion, and increased Aβ42/Aβ40 ratio in transfected cells. Unknown I213F Alzheimer's Disease: PathogenicAlzheimer's
PSEN1 G209V
MUTATIONS PSEN1 73659429 GRCh37/hg19 rs63750053 G T g.44645G> T g.61251G> T Exon 7 Point, Missense Coding Abrogated Aβ40 production and drastically reduced Aβ42 production in vitro. Also, caused incomplete endoproteolytic processing of PSEN1. Neuropathology c
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