Mutations Position Table

PSEN1 L219 Mutations

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 rs63749987
Coding
Exon 7
Point, Missense
CTT to TTT
0 Terreni et al., 2016
L219P
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63750761
Coding
Exon 7
Point, Missense
CTT to CCT
0 Smith et al., 1999
L219R
Alzheimer's Disease Alzheimer's Disease : Unclear Pathogenicity

Unknown.

Unknown.


Coding
Exon 7
Point, Missense
CTT to CGT
0 Ikeda et al., 2013