Variant "GPX1:c.593C>T(p.Pro200Leu)"
Search result: 1 record
Variant information
Gene:
GPX1 
Variant:
GPX1:c.593C>T(p.Pro200Leu) 
Genomic location:
chr3:49394834(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000581.3:c.599C>T(p.Pro200Leu)
protein_coding NM_001329455.1:c.461C>T(p.Pro154Leu)
protein_coding NM_201397.2:c.*581C>T
protein_coding NM_001329502.1:c.*425C>T
protein_coding NM_001329503.1:c.*105C>T
protein_coding NM_001313941.1:c.*2808C>T
protein_coding NM_001313943.1:c.*2965C>T
protein_coding NM_001313944.1:c.*2808C>T
protein_coding NM_001313945.1:c.*2808C>T
protein_coding NM_001313946.1:c.*2808C>T
protein_coding NM_001313947.1:c.*5109C>T
protein_coding NM_001664.3:c.*2808C>T
show all
dbSNP ID:
rs1050450  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered onset time(1)  
Detail：
  • Target disease:
    Pseudoxanthoma Elasticum (DOID_2738)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    From review article 
    Effect:
    CAT,SOD2,GPX1 mutated alleles, indicating a cumulative effect on the time of PXE onset
    Reference:
    PMID23802012
    Title:
    New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.
    Species studied:
    Human
    Abstract:
    Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.