PSEN1 G378 Mutations

Mutation	Clinical Phenotype	Pathogenicity	Neuropathology	Biological Effect	Genomic Position	Genomic Region	Mutation Type Codon Change	Primary Papers
G378E	Alzheimer's Disease, Cerebral Amyloid Angiopathy	Alzheimer's Disease : Pathogenic, Cerebral Amyloid Angiopathy : Not Classified	Neuropathology consistent with AD. One case also had notable cerebral amyloid angiopathy.	Increased Aβ42/Aβ40 ratio; increased Aβ42.	rs63750323	Coding Exon 11	Point, Missense GGA to GAA	Besançon et al., 1998
G378fs	Alzheimer's Disease	Alzheimer's Disease : Not Classified	Unknown; MRI showed hippocampal and parahippocampal atrophy.	The insertion of one nucleotide in exon 11 is predicted to cause a frameshift. In cells, Aβ40 and Aβ42 production decreased and Aβ42/Aβ40 ratio increased.		Coding Exon 11	Insertion	El Kadmiri et al., 2014
G378R		Alzheimer's Disease : Not Classified	Unknown, but MRI of one patient showed fronto-temporo-parietal atrophy and CSF biomarkers consistent with AD.	Unknown, but predicted deleterious in silico and two other pathogenic mutations in same residue.		Coding Exon 11	Point, Missense GGA to CGA	Ramos-Campoy et al., 2020
G378V	Alzheimer's Disease	Alzheimer's Disease : Pathogenic	Neuropathology consistent with AD.	Decreased Aβ42 and abrogation of Aβ40 production in vitro. Predicted to have a damaging effect by SIFT, Polyphen, and Mutation Taster.	rs63750323	Coding Exon 11	Point, Missense GGA to GTA	Janssen et al., 2003

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Mutations Position Table

PSEN1 G378 Mutations

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