Mutations Position Table

PSEN1 H214 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
H214D
Alzheimer's Disease Alzheimer's Disease : Pathogenic
Coding
Exon 7
Point, Missense
CAC to GAC
0 Clarimón et al., 2008;
Guerreiro et al., 2010
H214N
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; CT scan showed diffuse cerebral atrophy more pronounced in medial temporal lobes.

Unknown; predicted probably damaging in silico.


Coding
Exon 7
Point, Missense
CAC to AAC
0 Piccoli et al., 2016
H214Y
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; imaging showed global cortical atrophy with marked frontotemporal atrophy and white-matter lesions.

Unknown; predicted possibly damaging in silico.

rs63751003
Coding
Exon 7
Point, Missense
CAC to TAC
0 Raux et al., 2005