Mutations Position Table

PSEN1 C263 Mutations

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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 [MET1] g.49973G>T
[NT1] g.66579G>T
rs63751102
Coding
Exon 8
Point, Missense
TGT to TTT
0 Janssen 2003
C263R
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.49972T>C
[NT1] g.66578T>C
rs63750543
Coding
Exon 8
Point, Missense
TGT to CGT
0 Wasco 1995