Variant: rs121917807 

    present in Gene: PSEN1
    present in Chromosome: 14
    Position on Chromosome: 73198057
    Alleles of this Variant: G/A

rs121917807 in PSEN1 gene and Alzheimer disease, familial, type 3 PMID 8837617 1996 The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology.

PMID 9833068 1998 A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.

PMID 27930341 2017 Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

PMID 7651536 1995 Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.

PMID 25394380 2015 G206D Mutation of Presenilin-1 Reduces Pen2 Interaction, Increases Aβ42/Aβ40 Ratio and Elevates ER Ca(2+) Accumulation.

PMID 9719376 1998 De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.

PMID 29175279 2018 Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

PMID 19667325 2009 Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques.

PMID 16305624 2006 C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.

PMID 26145164 2015 Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease.

PMID 26280335 2015 An atomic structure of human γ-secretase.

PMID 21501661 2011 A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.

PMID 22529981 2012 Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes.

PMID 24582897 2014 A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.

PMID 10200054 1998 Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr.

PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

PMID 12370477 2002 Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.

PMID 15364419 2004 A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.

PMID 11561050 2001 Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).

PMID 11796781 2002 A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.