Mutations Position Table

PSEN2 N141 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
N141I
(Volga German)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Extensive amyloid plaques; Extensive neurofibrillary tangles (typically a Braak score of V or VI); α-synuclein inclusions, especially in the amygdala; Rare TDP-43 pathology; Hippocampal sclerosis.

Increased Aβ42/Aβ40 ratio; increased Aβ42; No change in proteolytic products PSEN2-CTF and PSEN2-NTF.

rs63750215
Coding
Exon 5
Point, Missense
AAC to ATC
5 Levy-Lahad et al., 1995;
Rogaev et al., 1995
N141Y
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Proband had autopsy-confirmed AD with severe brain atrophy and numerous plaques and neurofibrillary tangles.

Unknown; predicted damaging in silico.

rs61761208
Coding
Exon 5
Point, Missense
AAC to TAC
0 Niu et al., 2014

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