Mutations Position Table

PSEN1 M84 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
M84T
AD : Not Classified Substitution Substitution | Missense Coding Exon 4

Neuropathology consistent with AD. Severe CAA, no Lewy bodies observed.

Unknown. In silico predicted deleterious (CADD-PHRED score = 24).

Lanoiselée et al., 2017
M84V
AD : Pathogenic Substitution Substitution | Missense Coding Exon 4

Neuropathology consistent with AD in 2 cases. MRI showed cortical and cerebellar atrophy in 2 cases; frontal and temporal lobe atrophy in a third case.

Increased Aβ42 and Aβ42/Aβ40 ratio in cells.

Hooli et al., 2014
I83_M84del
(DelIM, ΔI83/M84, ΔI83/ΔM84)
AD : Not Classified Deletion Deletion | Deletion Coding Exon 4

Accumulation of noncongophilic, Aβ-positive, cotton-wool plaques in brain parenchyma. Widespread cerebral amyloid angiopathy, neurofibrillary tangles, and neuropil threads.

Hexanucleotide deletion resulting in deletion of two amino acids (I and M). In cells, increased Aβ42/Aβ40 ratio; decreased Aβ37/Aβ42 ratio. Increased Aβ43.

Houlden et al., 2000;
Steiner et al., 2001

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