Mutations Position Table
PSEN1 A231 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|---|
| A231V |
Alzheimer's Disease | AD : Not Classified | Unknown |
Unknown, but multiple in silico algorithms predicted a damaging effect. |
rs63750799 |
Coding | Exon 7 | Point, Missense GCC to GTC |
0 | Cruts et al., 1998 |
| A231P |
Alzheimer's Disease | AD : Not Classified | Unknown. |
Unknown, but multiple in silico algorithms predicted a damaging effect. |
Coding | Exon 7 | Point, Missense GCC to CCC |
0 | Nicolas et al., 2015 | |
| A231T |
Alzheimer's Disease | AD : Likely Pathogenic | Unknown |
Decreased Aβ37/Aβ42; Aβ42/Aβ40 mixed results. Decreased production of all Aβ peptides. |
rs63749836 |
Coding | Exon 7 | Point, Missense GCC to ACC |
0 | Campion et al., 1995 |
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