Mutations Position Table

PSEN1 C263 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
C263F
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63751102
Coding
Exon 8
Point, Missense
TGT to TTT
0 Janssen et al., 2003
C263R
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63750543
Coding
Exon 8
Point, Missense
TGT to CGT
0 Wasco et al., 1995

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