Mutations Position Table

PSEN2 A258 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
A258T
None Alzheimer's Disease : Not Pathogenic

Not applicable.

Unknown.

rs148238688
Coding
Exon 7
Point, Missense
GCC to ACC
0 Sala Frigerio et al., 2015
A258V
Alzheimer's Disease Alzheimer's Disease : Unclear Pathogenicity

Unknown

Predicted not pathogenic in silico.

rs14443227784
Coding
Exon 7
Point, Missense
GCC to GTC
0 Yagi et al., 2014

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