Mutations Position Table
PSEN2 T122 Mutations
| 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. |
Increased Aβ42/Aβ40 ratio and decreased Aβ37/Aβ42 ratio in cells. 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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