Mutations Position Table

PSEN1 A231 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
A231T
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.44710G>A
[NT1] g.61316G>A
rs63749836
Coding
Exon 7
Point, Missense
GCC to ACC
0 Campion 1995
A231V
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.44711C>T
[NT1] g.61317C>T
rs63750799
Coding
Exon 7
Point, Missense
GCC to GTC
0 Cruts 1998

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