Mutations Position Table
PSEN1 R278 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| R278K |
Spastic Paraparesis, Alzheimer's Disease | Alzheimer's Disease : Pathogenic, Spastic Paraparesis : Pathogenic | Unknown; MRI and CT scans reported as normal in one individual |
Increased Aβ42 production in patient fibroblasts; but reduced Aβ42 and Aβ40 production in assay with purified proteins. In both cases, increased Aβ42/Aβ40. |
rs63749891 |
Coding Exon 8 |
Point, Missense AGA to AAA |
0 | Assini et al., 2003 |
| R278T |
Spastic Paraparesis, Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Neuropathology consistent with AD was detected in one brain biopsy. |
Unknown |
rs63749891 |
Coding Exon 8 |
Point, Missense AGA to ACA |
0 | Kwok et al., 1997 |
| R278I |
Alzheimer's Disease, Progressive Nonfluent Aphasia | Alzheimer's Disease : Pathogenic, Progressive Nonfluent Aphasia : Pathogenic | Unknown; MRI showed multiple white-matter foci; Atrophy minimal or absent. |
Deficient maturation of mutant protein in iPSC-derived neurons. Selective increase in secreted Aβ43; impaired endoproteolysis of PSEN1. Increased Aβ42/Aβ40, Aβ42/Aβ38, and particularly Aβ43/Aβ40 ratios. Aβ38/Aβ40 ratio similar to wild-type. Impaired processing of the ApoER2 LDL receptor.
|
rs63749891 |
Coding Exon 8 |
Point, Missense AGA to ATA |
1 | Godbolt et al., 2004 |
| R278S |
Spastic Paraparesis, Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Unknown |
Unknown |
rs63750524 |
Coding Exon 8 |
Point, Missense AGA to AGC |
0 | Raman et al., 2007 |
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