Mutations Position Table

PSEN1 L226 Mutations

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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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