Mutations Position Table

PSEN1 F237 Mutations

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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 [MET1] g.44728T>A
[NT1] g.61334T>A
rs63750858
Coding
Exon 7
Point, Missense
TTT to ATT
0 Sodeyama 2001
F237L
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.44728T>C
[NT1] g.61334T>C
rs63750858
Coding
Exon 7
Point, Missense
TTT to CTT
0 Janssen 2003