Mutations Position Table

PSEN1 A231 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
A231P
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown; predicted damaging in silico.


Coding
Exon 7
Point, Missense
GCC to CCC
0 Nicolas et al., 2015
A231T
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63749836
Coding
Exon 7
Point, Missense
GCC to ACC
0 Campion et al., 1995
A231V
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63750799
Coding
Exon 7
Point, Missense
GCC to GTC
0 Cruts et al., 1998

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