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Table 1 Nucleotide changes and haploypes of MBL2.

From: Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes

  259 273 311 388 396 456 474 477 478 482 487 495 578 598 602 658 659 712 753 788 797 826 925 926 965 1045 1052 1061
   (H, L)    (P1, Q1)   (P2, Q2)     (P3, Q3) (P4, Q4)    (X, Y)     (P5, Q5)    (P6, Q6)     (A, D) (A, B) (A, C)
*1A1-h (LYPA) C C G G A G A C G A A AAAGAG G C G C C A C T C C C T G C G G
*1A1.1B2-l (LYPD) . . . . . . . . . . . . . . . . . . . . . . . . . T . .
*1B1-h (HYPA) . G . . . . . . . . . . . . . . . . . . . . . . . . . .
*1B2-l (HYPD) . G . . . . . . . . . . . . . . . . . . . . . . . T . .
*1B3 . G . . . . . . . . . . . A . . . . . . . . . . . . . .
*1C1-l (LXPA) . . . . . . . . . . . . . . C . . . . . . . . . . . . .
*1C2 . . C . . . . . . . . . . . C . . . . . . . . . . . . .
*1D1-h T . . . . . . . . . . . . . . . . . . . . . . . . . . .
*1E1-h (LYPF) . . . . . . . . . . . . . . . . . . . . . . G G . . . .
*1F1-l (LYPB) . . . . . . . . . . . . . . . . . . . . . . . . . . A .
*1F2 . . . . . . . . . . . . . . . . . . . C . . . . . . A .
*1G1-h . . . . . . . . . . . . . . . A . . . . . . . . . . . .
*1H1-h . . . A . . . . . . . . . . . . . . . . . . . . . . . .
*1H2-h . . . A . . . T . . . . . . . . . . . . . . . . . . . .
*1J1-h . . . . . . . . A . . . . . . . . . . . . . . . . . . .
*2A1-h . . . . . . . . . . G . . . . . . . . . . . . . . . . .
*3A1-h . . . . . . G . . . G ------ . . . . . . T . . T . . . . . .
*4A1-h (LYQA) . . . . C . G . . . G ------ . . . . . . T . . T . . . . . .
*4B1-l (LYQE) . . . . C . G . . . G ------ . . . . . . T . . T . . C . . .
*4C1-h . . . . C T G . . . G ------ . . . . . . T . . T . . . . . .
*4D1-h . . . . C . G . . . G ------ . . . . T . T . . T . . . . . .
*4E1-h . . . . C . G . . . G ------ A . . . . . T . . T . . . . . .
*4F1-l (LYQC) . . . . C . G . . . G ------ . . . . . . T . . T . . . . . A
*4F2A-l . . . . C . G . . . G ------ . . . . . . T . A T . . . . . A
*4F2B-l . . . . C . G . . G G ------ . . . . . . T . A T . . . . . A
*4F3-l . . . . C . G . . . G ------ . . . . . T T . . T . . . . . A
  1. The positions corresponding to the SNPs and to the deletion (position of the first deleted nucleotide) are shown in the first row (Reference sequence: Y16577). Haplotype nomenclature was given according to others [17]. The common nomenclature of formerly known SNPs and haplotypes (excluding LYPF and LYQE), is given in parentheses. *1B3, *1C2 and *1F2 were not investigated for MBL concentration, and thus did not receive the designation "l" (for low MBL levels) or "h" (for high levels). For all other haplotypes, MBL levels have been reported by us and by others [2, 7, 913]. In gray: coding region of exon 1. In SNP database: g.259C > T as rs35451939, g.273G > C as rs11003125, g.311G > C as ss107796309, g.388G > A as rs7100749, g.396A > C as rs11003124, g.456G > T as rs35615810, g.474A > G as rs7084554, g.477C > T as ss107796300, g.478G > A as ss107796301, g.482A > G as ss107796302, g.487A > G as rs36014597, g.495delAAAGAG as rs10556764, g.578G > A as rs35236971, g.598C > A as ss107796311, g.602G > C as rs7096206, g.658C > A as ss107796303, g.659C > T as ss107796304, g.712A > T as ss107796305, g.753C > T as rs11003123, g.788T > C as ss107796312, g.797C > A as rs45602536, g.826C > T as rs7095891, g.925C > G as ss107796306, g.926T > G as ss107796307, g.965G > C as ss107796308, g.1045C > T as rs5030737, g.1052G > A as rs1800450, g.1061G > A as rs1800451.