Mutations Position Table

PSEN1 H214 Mutations

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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 [MET1] g.44659C>G
[NT1] g.61265C>G

Coding
Exon 7
Point, Missense
CAC to GAC
0 Clarimón 2008;
Guerreiro 2010
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.

[MET1] g.44659C>T
[NT1] g.61265C>T
rs63751003
Coding
Exon 7
Point, Missense
CAT to TAT
0 Raux 2005