SEARCH RESULTS

8 RESULTS

PSEN1 A285S

MUTATIONS PSEN1 73664822 GRCh37 (105) G T Exon 8 Point, Missense Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and tolerable (SIFT). CADD score = 25.9. Unknown, but in one case, PiB-PET was positive, MRI revealed bilateral ...

PSEN1 Y159C

MUTATIONS 73640411 GRCh37 (105) rs778630379 A G PSEN1 Exon 5 Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerated (SIFT). Cryo-EM suggests structural role in PSEN1-APP interaction. CADD score = 28.3. Unknown, but in one ...

PSEN1 Y389H

MUTATIONS PSEN1 73683869 GRCh37 (105) T C Exon 11 Point, Missense Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerable/damaging (SIFT). CADD score = 26.9. Unknown, but in two cases, amyloid-PET was positive. MRI ...

PSEN1 L282P

MUTATIONS PSEN1 Chr14:73664814 GRCh37 (105) T C Exon 8 Point, Missense Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerated (SIFT). CADD score = 28.5 Unknown, but in one patient, MRI revealed mild, diffuse cortical ...

PSEN1 Y389S

MUTATIONS PSEN1 73683870 GRCh37 (105) A C Exon 11 Point, Missense Coding Unknown, but predicted probably damaging by in silico algorithms Polyphen2 and SIFT. CADD score = 26.8. Unknown, but one case had Aβ accumulation (PiB-PET+), with mild, diffuse cortical ...

PSEN2 K82fs

MUTATIONS 227071509 GRCh37 (105) AA-- PSEN2 Exon 4 Deletion Coding Frameshift starting at K82; reduced mutant protein in frontal cortex and hippocampus. Neuropathology consistent with Pick's disease. K82fs Tauopathy consistent with Pick's Disease: Unclear ...

PSEN2 G359fs (Intron 11/12 delAG)

MUTATIONS 227081706 GRCh37 (105) AG-- PSEN2 Intron 11/12 Deletion Non-Coding Coding Deletion of an adenine in intron 11/12 resulting in exon 12 skipping and a frameshift starting at codon G359; new termination codon in the 3' UTR. Unknown. G359fs (Intron 11/12 ...

PSEN2 G359fs (Intron 11/12 delA)

MUTATIONS 227081706 GRCh37 (105) A- PSEN2 Intron 11/12 Deletion Non-Coding Coding Deletion of an adenine in intron 11/12 resulting in exon 12 skipping and a frameshift starting at codon G359; new termination codon in the 3' UTR. Reduced PSEN2 levels due to ...

Current Filters

  • TYPE: Antibody x
  • TYPE: Research Models x
  • TYPE: Protocol x
  • TYPE: Alzpedia x
  • TYPE: Mutations x
  • TYPE: Biomarker Meta Analysis x
  • TYPE: Therapeutics x
  • Date Range : Mar 2020 to Apr 2020 x

Remove all filters

Filter By

DATE RANGE
TYPE
DATABASE