Table 1.
Functionally characterized polymorphisms of MBL2
| dbSNP identifiera | SNP position (5′ → 3′)b | Chromosome positionb | Secretorc | Region | Nucleotide change | Effect | Characterized function | References |
|---|---|---|---|---|---|---|---|---|
| rs11003125 | −618 | 5,27,72,254 | L/H (aka −550) | 5′ near gene | C/G | Variation in the promoter activity of MBL2 | Alter transcriptional levels | [75,76,77] |
| rs7096206 | −289 | 5,27,71,925 | Y/X (aka −221) | 5′ near gene | G/C | |||
| rs7095891 | −65 | 5,27,71,701 | P/Q (aka +4) | 5′ near gene | C/T | |||
| rs5030737 | +152 | 5,27,71,482 | A/D (codon 52) | Exon 1 | C/T | Distortion in the triple helix collagenous region | Dramatically reduce the formation of functional higher order oligomers | [69,70,71,72,73,74] |
| rs1800450 | +161 | 5,27,71,475 | A/B (codon 54) | Exon 1 | G/A | |||
| rs1800451 | +170 | 5,27,71,466 | A/C (codon 57) | Exon 1 | G/A | Formation of adventitious disulfide bonds | ||
| rs10082466 | +4,455 | 5,27,66,862 | — | 3′UTR | A/G | Generates a binding site for miR-27a | Hasten mRNA degradation by miR-27a with reduced protein translation | [63] |
a
NCBI dbSNP database (http://www.ncbi.nlm.nih.gov/SNP).
b
NCBI contig accession number NT_030059.14 (NCBI build 142, locus ID 4153).
c
Designation extensively used in the literature is also followed in the present study, and these markers form the “secretor haplotypes.”