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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, 9–13]. 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.
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