Variant "APP:c.2149G>A(p.Val717Ile)"
Search result: 1 record
Variant information
Gene:
APP 
Variant:
APP:c.2149G>A(p.Val717Ile) 
Genomic location:
chr21:27264096(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000484.3:c.2149G>A(p.Val717Ile)
protein_coding NM_001204301.1:c.2095G>A(p.Val699Ile)
protein_coding NM_201413.2:c.2092G>A(p.Val698Ile)
protein_coding NM_001136016.3:c.2077G>A(p.Val693Ile)
protein_coding NM_001204302.1:c.2038G>A(p.Val680Ile)
protein_coding NM_001136130.2:c.1981G>A(p.Val661Ile)
protein_coding NM_201414.2:c.1924G>A(p.Val642Ile)
protein_coding NM_001204303.1:c.1870G>A(p.Val624Ile)
protein_coding NM_001136131.2:c.1819G>A(p.Val607Ile)
protein_coding NM_001136129.2:c.1756G>A(p.Val586Ile)
show all
dbSNP ID:
rs63750264  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor and Altered onset time(1)  
Detail：
  • Target disease:
    Alzheimer's Disease (DOID_10652)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor and Altered onset time 
    Evidence:
    Pedigree analysis 
    Effect:
    Reduced risk of Alzheimer disease or Early onset Alzheimer disease
    Reference:
    PMID1671712
    Title:
    Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.
    Species studied:
    Human
    Abstract:
    A locus segregating with familial Alzheimer's disease (AD) has been mapped to chromosome 21, close to the amyloid precursor protein (APP) gene. Recombinants between the APP gene and the AD locus have been reported which seemed to exclude it as the site of the mutation causing familial AD. But recent genetic analysis of a large number of AD families has demonstrated that the disease is heterogeneous. Families with late-onset AD do not show linkage to chromosome 21 markers. Some families with early-onset AD show linkage to chromosome 21 markers, but some do not. This has led to the suggestion that there is non-allelic genetic heterogeneity even within early onset familial AD. To avoid the problems that heterogeneity poses for genetic analysis, we have examined the cosegregation of AD and markers along the long arm of chromosome 21 in a single family with AD confirmed by autopsy. Here we demonstrate that in this kindred, which shows linkage to chromosome 21 markers, there is a point mutation in the APP gene. This mutation causes an amino-acid substitution (Val----Ile) close to the carboxy terminus of the beta-amyloid peptide. Screening other cases of familial AD revealed a second unrelated family in which this variant occurs. This suggests that some cases of AD could be caused by mutations in the APP gene.