Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs1800450

Hard Link
rs1800450 is a snp on gene MBL2 (mannose-binding lectin (protein C) 2, soluble)

GeneMBL2 Chromosome number Chromosome position
Alleles (transliterated to +) Minor Allele Minor Allele Frequency
Notation ↓ 161G>A Gly54Asp G-27A G54D 'B allele' Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Missense variant in codon 54 giving the low functioning B allele of MBL2
Gene Function
The MBL2 gene provides instructions for making a protein that assembles into a protein complex called mannose-binding lectin (MBL). This protein complex plays an important role in the immune system's response to foreign invaders (pathogens). MBL is involved in pattern recognition in the first line of immune defense. MBL recognizes patterns of carbohydrates (sugars) found on the surface of a large number of pathogenic microorganisms. Binding of MBL to a microorganism results in activation of the immune system. Mannose-binding lectin recognizes and attaches (binds) to sugars such as mannose, fucose, and glucose, that are found on the surface of bacteria, viruses, and yeast. This binding turns on (activates) the complement system, which is a group of immune system proteins that work together to destroy pathogens, trigger inflammation, and remove debris from cells and tissues. Attachment of mannose-binding lectin also targets the pathogen to be engulfed and broken down by special immune cells. Recognition of foreign invaders by mannose-binding lectin provides one of the body's first lines of defense against infection. Several common mutations of the MBL2 gene can lead to a condition called mannose-binding lectin deficiency. People with this condition have low levels of mannose-binding lectin and may be susceptible to recurrent infections. Several of the disease-associated mutations occur in a region of the MBL2 gene known as exon 1 and result in a change to single protein building blocks (amino acids) in the mannose-binding lectin subunit. Other mutations occur in an area of DNA near the MBL2 gene called the promoter region, which helps control the production of the mannose-binding lectin subunit. The change of a single amino acid in the mannose-binding lectin subunit eliminates its ability to assemble into the functional mannose-binding lectin. Similarly, certain mutations in the promoter region of the MBL2 gene reduce production of the mannose-binding lectin subunit, leading to a decreased number of subunits available for protein assembly and a reduction in the amount of functional protein. With decreased levels of mannose-binding lectin, the body does not recognize and fight foreign invaders efficiently. Consequently, infections can be more common in people with this condition. However, there are a number of factors, including other genetic and environmental factors, that are involved in the development of mannose-binding lectin deficiency. Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels of mannose-binding lectin in their blood. These individuals are prone to recurrent infections, including infections of the upper respiratory tract and other body systems. People with this condition may also contract more serious infections such as pneumonia and meningitis. Depending on the type of infection, the symptoms caused by the infections vary in frequency and severity. Infants and young children with mannose-binding lectin deficiency seem to be more susceptible to infections, but adults can also develop recurrent infections. In addition, affected individuals undergoing chemotherapy or taking drugs that suppress the immune system are especially prone to infections. Low MBL activity does protect against certain types of infection however, such as tuberculosis. 
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

NOT REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs1800450 (MBL2) | rs17000900 () | rs2660 () | rs4830974 () | rs1304029 (B3GAT2) | rs2248690 () | rs2158082 () | rs879922 () | rs4240157 () | rs2074192 () | rs2048683 ()

MOST FREQUENTLY SEARCHED:
rs429358 (APOE) | rs9939609 (FTO) | rs1801181 (CBS) | rs1799941 (SHBG) | rs1801133 (MTHFR) | rs2187668 (HLA-DQA1) | rs4680 (COMT) | rs6025 (F5) | rs20541 (IL13) | rs2569191 (CD14) | rs2235544 (DIO1)








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