Mutations Position Table
PSEN1 V142 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| V142F |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | Unknown, but MRI showed severe cortical atrophy that was most pronounced in frontal and temporal lobes. |
Predicted to be pathogenic by MutPred, SNPs&Go, MutationTaster, and SIFT. |
Wang et al., 2018 |
| V142I |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | Unknown |
Little or no effect on Aβ42/Aβ40 and Aβ37/Aβ42 ratios in cells. |
Koriath et al., 2018 |
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