82 RESULTS
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
