Mutations Position Table

PSEN2 T122 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
T122P
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

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

[MET1] g.3636A>C
[NT1] g.19974A>C
rs63749851
Coding
Exon 5
Point, Missense
ACG to CCG
0 Finckh 2000
T122R
Atypical Dementia Atypical Dementia : Pathogenic

Variable cortical and subcortical atrophy.

Reduced calcium ion release from intracellular stores.

[MET1] g.3637C>G
[NT1] g.19975C>G
rs28936380
Coding
Exon 5
Point, Missense
ACG to AGG
0 Binetti 2003

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.