Mutations Position Table

PSEN1 A231 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Coding/Non-Coding Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
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
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

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