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329930 RESULTS

PSEN1 M233L (A> T)

MUTATIONS PSEN1 73659500 GRCh37/hg19 rs63751287 A T g.44716A> T g.61322A> T Exon 7 Point, Missense Coding Increased Aβ42 and decreased Aβ40 production, resulting in increased Aβ42/Aβ40 ratio in vitro. In cells, increased Aβ42/Aβ40 ratio, decreased total Aβ pr

PSEN1 M233V

MUTATIONS PSEN1 73659500 GRCh37/hg19 rs63751287 A G g.44716A> G g.61322A> G Exon 7 Point, Missense Coding Increased Aβ42/Aβ40 ratio and decreased Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios in cells.  In one case: neurofibrillary tangles and amyloid pl

PSEN1 M233L (A> C)

MUTATIONS PSEN1 73659500 GRCh37/hg19 rs63751287 A C g.44716A> C g.61322A> C Exon 7 Point, Missense Coding In vitro, increased Aβ42 production, decreased Aβ40 production; increased Aβ42:Aβ40 ratio. In cells, increased Aβ42 and Aβ43, decreased total Aβ producti

PSEN1 A231V

MUTATIONS PSEN1 73659495 GRCh37/hg19 rs63750799 C T g.44711C> T g.61317C> T Exon 7 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown A231V Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Th

PSEN1 A231T

MUTATIONS PSEN1 73659494 GRCh37/hg19 rs63749836 G A g.44710G> A g.61316G> A Exon 7 Point, Missense Coding Decreased Aβ37/Aβ42; Aβ42/Aβ40 mixed results. Decreased production of all Aβ peptides. Unknown A231T Alzheimer's Disease: Likely PathogenicAlzheimer

PSEN1 I229F

MUTATIONS PSEN1 73659488 GRCh37/hg19 rs63749970 A T g.44704A> T g.61310A> T Exon 7 Point, Missense Coding In vitro, increased Aβ42 production and reduced Aβ40; increased Aβ42/Aβ40 ratio Unknown I229F Alzheimer's Disease: Not ClassifiedAlzheimer's Di

PSEN1 L226R

MUTATIONS PSEN1 73659480 GRCh37/hg19 rs63749961 T G g.44696T> G g.61302T> G Exon 7 Point, Missense Coding Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. Neuropathology consistent with AD in one individual, including numer

PSEN1 Q223R

MUTATIONS PSEN1 73659471 GRCh37/hg19 A G g.44687A> G g.61293A> G Exon 7 Point, Missense Coding Increased Aβ42/Aβ40 ratio, decreased Aβ37/Aβ42 ratio, and dramatically increased Aβ43. Unknown, but cotton-wool plaques and neurofibrillary tangles were found in tw

PSEN1 Q222H

MUTATIONS PSEN1 73659469 GRCh37/hg19 rs63751072 G C g.44685G> C g.61291G> C Exon 7 Point, Missense Coding Increased Aβ42/Aβ40, decreased Aβ37/Aβ42, and increased Aβ43 levels in cultured cells. Neuropathology consistent with AD in one case, CSF biomarkers cons

PSEN1 Q222R

MUTATIONS PSEN1 73659468 GRCh37/hg19 rs63750009 A G g.44684A> G g.61290A> G Exon 7 Point, Missense Coding Increased Aβ40 and Aβ42 production, as well as the Aβ42/Aβ40 ratio in vitro. Unknown Q222R Alzheimer's Disease: Likely PathogenicAlzheimer's Di

PSEN1 L219P

MUTATIONS PSEN1 73659459 GRCh37/hg19 rs63750761 T C g.44675T> C g.61281T> C Exon 7 Point, Missense Coding Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. Neuropathology consistent with AD in one case; meningeal CAA in cort

Yaming Shan


College of Life Science, Jilin University
Changchun, China

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