Mutations Position Table

PSEN1 L250 Mutations

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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 [MET1] g.44767T>G
[NT1] g.61373T>G
rs63750634
Coding
Exon 7
Point, Missense
TTG to GTG
0 Furuya 2003
L250S
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.44768T>C
[NT1] g.61374T>C
rs63751163
Coding
Exon 7
Point, Missense
TTG to TCG
0 Hutton 1996;
Harvey 1998