92 RESULTS
MUTATIONS PSEN1 73659432 GRCh37/hg19 T G Exon 7 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown, but levels of AD biomarkers in proband's CSF (Aβ42, tau, phospho-tau) were in the pathological range. M210R
MUTATIONS PSEN1 73659417_73659419 GRCh37/hg19 TTG--- Exon 7 Deletion Coding Unknown, but in silico algorithms predicted damaging Unknown F205_G206delinsC Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation is a deletion of the last two nucleo
MUTATIONS PSEN1 73653619 GRCh37/hg19 T A Exon 6 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect Unknown I180N Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This mutation was identified in a French stu
MUTATIONS PSEN1 73640285 GRCh37/hg19 C A Exon 5 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown, but CSF biomarkers (Aβ42, tau, and phospho-tau) were in the AD pathological range in one case. P117Q Alzheimer�
MUTATIONS PSEN1 73637748 GRCh37/hg19 G T Exon 4 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown G111W Alzheimer's Disease: Likely PathogenicAlzheimer's Disease This mutation was identified in a French
MUTATIONS PSEN1 73637680 GRCh37/hg19 C A Exon 4 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown P88H Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This mutation was identified in a screen of
MUTATIONS PSEN1 73637668 GRCh37/hg19 T C Exon 4 Point, Missense Coding Unknown. In silico predicted deleterious (CADD-PHRED score = 24). Neuropathology consistent with AD. Severe CAA, no Lewy bodies observed. M84T Alzheimer's Disease: Not ClassifiedAlzheimer&#
MUTATIONS PSEN1 73659513 GRCh37/hg19 T G Exon 7 Point, Missense Coding Unknown. Evolutionarily conserved codon across species and between human PSEN1 and PSEN2. Unknown. F237C Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This mutation was identi
MUTATIONS PSEN1 73664754 GRCh37/hg19 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: Not ClassifiedAlzheimer's Disease This mutation was found in a
MUTATIONS PSEN1 73653598 GRCh37/hg19 T C Exon 6 Point, Missense Coding Unknown, predicted to be damaging by multiple in silico analyses, but not all. PHRED-CADD score=24.1 Unknown L173S Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was
MUTATIONS PSEN1 73640406 GRCh37/hg19 rs201617677 G T Exon 5 Point, Missense Coding Unknown, but multiple in silico analyses predicted the mutation is likely pathogenic, CADD score, 31. Unknown, but one patient had posterior cortical atrophy and mild medial temporal
MUTATIONS PSEN1 73640350 GRCh37/hg19 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 Alzhe
MUTATIONS PSEN1 73640314_73640319 GRCh37/hg19 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.
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 ma
MUTATIONS TREM2 41135850 GRCh37/hg19 rs7759295 G C rs7759295 Upstream Point Non-Coding Unknown. This variant was associated with a higher burden of neurofibrillary tangles in subjects from three prospective cohort studies, but not with amyloid plaques, amyloid angi
