Variant "MAGI3:c.3953G>A(p.Gly1318Asp)"
Search result: 1 record
Variant information
Gene:
MAGI3 
Variant:
MAGI3:c.3953G>A(p.Gly1318Asp) 
Genomic location:
chr1:114226143(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001142782.1:c.3953G>A(p.Gly1318Asp)
protein_coding NM_152900.2:c.*1260G>A
dbSNP ID:
rs61742849  
GWAS trait:
bulimia nervosa 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered onset time(1)  
Detail：
  • Target disease:
    Alzheimer's Disease (DOID_10652)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    P(FDR)=4.38×10(-34) 
    Effect:
    Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's disease
    Reference:
    PMID27573710
    Title:
    Mutations modifying sporadic Alzheimer's disease age of onset.
    Species studied:
    Human
    Abstract:
    The identification of mutations modifying the age of onset (AOO) in Alzheimer's disease (AD) is crucial for understanding the natural history of AD and, therefore, for early interventions. Patients with sporadic AD (sAD) from a genetic isolate in the extremes of the AOO distribution were whole-exome genotyped. Single- and multi-locus linear mixed-effects models were used to identify functional variants modifying AOO. A posteriori enrichment and bioinformatic analyses were applied to evaluate the non-random clustering of the associate variants to physiopathological pathways involved in AD. We identified more than 20 pathogenic, genome-wide statistically significant mutations of major modifier effect on the AOO. These variants are harbored in genes implicated in neuron apoptosis, neurogenesis, inflammatory processes linked to AD, oligodendrocyte differentiation, and memory processes. This set of new genes harboring these mutations could be of importance for prediction, follow-up and eventually as therapeutical targets of AD. 2016 Wiley Periodicals, Inc.