Mutations Position Table
PSEN1 V261 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| V261F |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Neuropathology consistent with AD, with cotton-wool plaques, CAA, and degeneration of spinal lateral pyramidal tracts. |
Increased Aβ43 production (prevailing Aβ species) in cells. Decreased Aβ42 and Aβ40 production, and increased Aβ42/Aβ40 ratio in vitro. Also, abolished autoproteolysis. |
Rogaeva et al., 2001; Farlow et al., 2000; Farlow et al., 2001 |
| V261I |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 8 | Consistent with AD, with widespread cotton wool plaques. |
Unknown, but multiple in silico algorithms predicted it is damaging. |
Miravalle et al., 2005 |
| V261L |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown, but MRI showed cortical and subcortical atrophy, and SPECT revealed temporal hyperperfusion in one patient. |
Unknown, but multiple in silico algorithms predicted it is deleterious |
Jiménez Caballero et al., 2008; Gómez-Tortosa et al., 2010 |
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