Mutations Position Table
PSEN1 L226 Mutations
Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
---|---|---|---|---|---|---|---|---|
L226R |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Neuropathology consistent with AD in one individual, including numerous neuritic plaques and neurofibrillary tangles in the hippocampus and neocortex. |
Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. |
Coleman et al., 2004 |
L226F |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Neuropathology consistent with AD. |
Increased Aβ42/Aβ40 ratio; increased Aβ42; increased Aβ40. |
Zekanowski et al., 2006 |
L226V |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown, but imaging in one case showed a posterior gradient of atrophy including the hippocampus; white matter alterations in cortical and subcortical regions, and hypoperfusion in the right temporal, parietal, and occipital lobes. Also, decreased Aβ42 and Aβ42/Aβ40 ratio in CSF, with normal tau and p-tau levels. |
Unknown, but in silico algorithm predicted a damaging effect (PHRED-scaled CADD = 28). |
Zilioli et al., 2023 |
For a comparison of individuals carrying different L226 variants, see Zilioli et al., 2023.
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