Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73640278 T>G
dbSNP ID: rs63749962
Mutation Type: Point, Missense
Codon Change: TAT to GAT
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 5
This mutation was detected in a single individual with early onset dementia. Symptoms occurred very early, at age 29 in the proband and age 31 in the proband’s affected father. The proband’s father died at age 44 (unpublished findings; personal communication T.D. Bird, 2014). The Y115D mutation is considered likely to be pathogenic given the early age of onset in the two affected family members and the fact that two other pathogenic mutations have been reported at codon 115 (Y115C and Y115H).
Postmortem examination showed neuropathology consistent with AD.
Other mutations at this position
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