Mutations Position Table

PSEN1 L219 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L219F
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.44674C>T
[NT1] g.61280C>T
rs63749987
Coding
Exon 7
Point, Missense
CTT to TTT
0 Terreni 2000
L219P
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.44675T>C
[NT1] g.61281T>C
rs63750761
Coding
Exon 7
Point, Missense
CTT to CCT
0 Smith 1999