Mutations Position Table

PSEN1 F237 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
F237I
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic rs63750858
Coding
Exon 7
Point, Missense
TTT to ATT
0 Sodeyama et al., 2001
F237L
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63750858
Coding
Exon 7
Point, Missense
TTT to CTT
0 Janssen et al., 2003

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