Mutations Position Table

PSEN2 T122 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
T122R
Atypical Dementia : Not Classified Substitution Substitution | Missense Coding Exon 6

Variable cortical and subcortical atrophy.

Reduced calcium ion released from intracellular stores.

Binetti et al., 2003
T122P
AD : Likely Pathogenic Substitution Substitution | Missense Coding Exon 6

Unknown.

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

Finckh et al., 2000

There are two reported variants at codon 122 in a region of PSEN2 that loops into the lumen. These variants result in the replacement of the threonine at this position with either arginine or proline. These are rare variants, described in one family (T122R) and two families (T122P), respectively. The clinical picture varies, with T122R associated with an atypical presentation of AD with features of FTD, whereas T122P appears to be associated with a more typical AD presentation.

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