Mutations Position Table

PSEN1 L250 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L250V
Alzheimer's Disease, Myoclonus Alzheimer's Disease : Pathogenic rs63750634
Coding
Exon 7
Point, Missense
TTG to GTG
0 Furuya et al., 2003
L250S
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63751163
Coding
Exon 7
Point, Missense
TTG to TCG
0 Hutton et al., 1996;
Harvey et al., 1998

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