Mutations Position Table
PSEN1 L250 Mutations
| 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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