|(C;C)||0||common in clinvar|
|(C;T)||1.1||carrier of mannose binding deficiency but of low clinical importance|
|(T;T)||1.6||mannose binding deficiency but of low clinical importance|
|Disease||Mannose-binding protein deficiency|
|CLNDBN||Mannose-binding protein deficiency|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
[PMID 18396467] Genetic variation and haplotype structures of innate immunity genes in eastern India.
[PMID 18452612] MBL2 and hepatitis C virus infection among injection drug users.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19366862] Elevated MBL concentrations are not an indication of association between the MBL2 gene and type 1 diabetes or diabetic nephropathy.
[PMID 20041166] Common genetic variation and the control of HIV-1 in humans.
[PMID 20042521] Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome.
[PMID 20196868] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.
[PMID 20463618] Role of polymorphic variants as genetic modulators of infection in neonatal sepsis.
[PMID 20465856] Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes.
[PMID 21211797] Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin.
[PMID 22417159] DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.
|qualified_impact||Low clinical importance, Likely pathogenic|
|summary||This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C).|
[PMID 22848725] Mannose-binding lectin deficiency is associated with myocardial infarction: the HUNT2 study in Norway.