Mutations Position Table
PSEN1 H214 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| H214R |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown, but in one case, MRI showed mild white matter demyelination of the frontal and parietal lobes, with no apparent atrophy of the cerebral cortex or hippocampus. |
Unknown, but multiple in silico algorithms predicted it is deleterious and structural modeling predicted alterations in the stability and position of TM helix 4. |
Li et al., 2019 |
| H214D |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown |
Decreased Aβ37/Aβ42 ratio; Aβ42/Aβ40 similar or greater than that of controls. Reduced production of Aβ37, Aβ38, Aβ39, Aβ40, and Aβ42 peptides, but not Aβ43. |
Clarimón et al., 2008; Guerreiro et al., 2010 |
| H214N |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown; brain imaging showed cerebral atrophy in medial temporal lobes and hippocampus, and amyloid in lateral temporal-frontal-parietal areas, posterior cingulate, and precuneus. Blood Aβ oligomerization consistent with AD. |
Increased Aβ42/Aβ40 and decreased Aβ37/Aβ42 ratios in cells. |
Piccoli et al., 2016 |
| H214Y |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown; imaging showed cortical atrophy, in one case more prominently in the left hemisphere, in another more marked in frontotemporal areas with white-matter lesions. |
Increased Aβ42/Aβ40 and decreased Aβ37/Aβ42 in cultured cells. |
Raux et al., 2005 |
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