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PSEN1 L241R

MUTATIONS PSEN1 73659525 GRCh37 (105) T G Exon 7 Point, Missense Coding Unknown Unknown, but mutation carrier had CSF AD biomarker levels (Aβ42, tau, phospho-tau) in the pathological range.  L241R Alzheimer's Disease: PathogenicAlzheimer's Disease This ...

PSEN1 M210R

MUTATIONS PSEN1 73659432 GRCh37 (105) T G Exon 7 Point, Missense Coding Unknown. Unknown, but levels of AD biomarkers in proband's CSF (Aβ42, tau, phospho-tau) were in the pathological range. M210R Alzheimer's Disease: PathogenicAlzheimer's Disease ...

PSEN1 F205_G206del;insC

MUTATIONS PSEN1 73659417 GRCh37 (105) TTG--- Exon 7 Deletion Coding Unknown Unknown F205_G206del;insC Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation is a deletion of the last two nucleotides of PSEN1 codon 205 and the first nucleotide of ...

PSEN1 I180N

MUTATIONS PSEN1 73653619 GRCh37 (105) T A Exon 6 Point, Missense Coding Unknown Unknown I180N Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was identified in a French study that screened 129 individuals with sporadic AD diagnosed ...

PSEN1 P117Q

MUTATIONS PSEN1 73640285 GRCh37 (105) C A Exon 5 Point, Missense Coding Unknown Unknown, but CSF biomarkers (Aβ42, tau, and phospho-tau) were in the AD pathological range in one case. P117Q Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation ...

PSEN1 G111W

MUTATIONS PSEN1 73637748 GRCh37 (105) G T Exon 4 Point, Missense Coding Unknown Unknown G111W Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was identified in a French study that screened 129 individuals with sporadic AD diagnosed ...

PSEN1 P88H

MUTATIONS PSEN1 73637680 GRCh37 (105) C T Exon 4 Point, Missense Coding Unknown Unknown P88H Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was identified in a screen of patients with early onset AD from 28 French hospitals (Lanoiselée ...

PSEN1 M84T

MUTATIONS PSEN1 73637668 GRCh37 (105) M T Exon 4 Point, Missense Coding Unknown. Neuropathology consistent with AD. Severe CAA, no Lewy bodies observed. M84T Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was identified in a screen of ...

PSEN1 F237C

MUTATIONS PSEN1 73659513 GRCh37 (105) T G Exon 7 Point, Missense Coding Unknown. Evolutionarily conserved codon across species and between human PSEN1 and PSEN2. Unknown F237C Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was identified ...

PSEN1 L262S

MUTATIONS PSEN1 73664754 GRCh37 (105) T C Exon 8 Point, Missense Coding Predicted to be damaging by four different algorithms, with a PHRED-CADD score of 32. Unknown L262S Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in a Han ...

PSEN1 L173S

MUTATIONS PSEN1 73653598 GRCh37 (105) T C Exon 6 Point, Missense Coding Unknown, predicted to be damaging by 4 in silico analyses. PHRED-CADD score=24.1 Unknown L173S Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in a Han ...

PSEN1 R157S

MUTATIONS PSEN1 73640406 GRCh37 (105) rs201617677 G T Exon 5 Point, Missense Coding In silico analyses predicted the mutation is likely pathogenic: Polyphen 2, probably damaging; SIFT, deleterious; CADD score, 31. Unknown R157S Alzheimer's Disease: Unclear ...

PSEN1 M139L

MUTATIONS PSEN1 73640350 GRCh37 (105) A T Exon 5 Point, Missense Coding  Aβ40 levels moderately decreased; Aβ42/Aβ40 ratio increased in cultured cells. Unknown, but MRI in two individuals revealed bilateral atrophy in the hippocampus and cerebral cortex. M139L ...

PSEN1 Q127_R128del(CAGA);InsG(G)

MUTATIONS PSEN1 73640314 GRCh37 (105) CAGAGA G Exon 5 Insertion/Deletion Coding Increased Aβ42 and decreased Aβ40 secreted from cells, resulting in increased Aβ42/Aβ40 ratio. However, earlier cell-based results suggested no effect on Aβ40 and Aβ42 levels.  Unknown ...

MAPT E372G

MUTATIONS MAPT 44101326 A G Exon 13 Point, Missense Coding Promotes tau filament formation and slightly decreases tau’s ability to promote microtubule assembly. Tau-positive Pick body-like neuronal inclusions and swollen, tapering, thread-like processes in white ...

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  • Date Range : Feb 2019 to Feb 2020 x

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