Mutations Position Table

PSEN1 L250 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
L250F
AD : Pathogenic Substitution Substitution | Missense Coding Exon 7

Unknown, but CT scans showed frontal, parietal, and temporal atrophy

Unknown, but multiple in silico algorithms predicted a damaging effect.

Butler et al., 2010
L250S
AD : Likely Pathogenic Substitution Substitution | Missense Coding Exon 7

Neuropathology consistent with AD in two cases.

In vitro, decreases Aβ40 and Aβ42 production; increases Aβ42/Aβ40 ratio.

Hutton et al., 1996;
Harvey et al., 1998
L250V
AD : Likely Pathogenic, Myoclonus : Not Classified Substitution Substitution | Missense Coding Exon 7

Unknown, but MRI showed diffuse cerebral atrophy and SPECT showed severe cortical hypoperfusion

Unknown, but multiple in silico algorithms predicted a damaging effect.

Furuya et al., 2003

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