Table 1.

Molecular bases of DIV types and the 2 partial D DWN and DNT

RHD allele					Predicted membrane localization†	Probands of this study
Proposed name*	Previous designation16, 54, 55	Nucleotide substitution in RHD gene†	Effect on protein sequence	Exon involved		probable Haplotype	Phenotype	n	References
DIV type 1.0 ‡	DIVa-2	dispersed 186G>T 410C>T 455A>C 1048G>C	dispersed L62F A137V N152T D350H	2 3 3 7	TM TM TM EF	cDe	ccDee	3	28
DIV type 1.1	DIVa type 1 54	dispersed 186G>T 455A>C 1048G>C	dispersed L62F N152T D350H	2 3 7	TM TM EF	NA§	NA	0	30, 55; original decription30 shown to be incorrect56
DIV type 2	DIVb type 2	gene conversion 1048C to 1193T	gene conversion 350H to 398V	part of 7 to 9	EF, TM, IC	NA	NA	0	30, 55
DIV type 3 ‡∥	DIVb type 3	gene conversion 916A to 1193T	gene conversion 306I to 398V	6 to 9	TM, IC, EF	CDe	CcDee CCDee CcDEe	5 3 1	31, 32, 55
DIV type 4 ‡	DIVb type 4	gene conversion 1048C to 1061A	gene conversion 350H to 354N	part of 7	EF	CDe	CcDee	8	33, 34, 55
DIV type 5 ‡	DIVb(J)	gene conversion 941T to 1193T	gene conversion 314V to 398V	7 to 9	TM, IC, EF	cDE	ccDEe	3	54
DWN ‡	NA	gene conversion 1053T to 1061A	gene conversion 353W to 354N	part of 7	EF	cDe	ccDee	1	this study
DNT ‡	NA	455A>C	N152T	3	TM	CDe	CcDee	1	this study57, 58

^*This name is also proposed for the D variant protein, for which it should be used in regular font (no italics).

^†Numbering refers to cDNA; all gene conversions from RHCE. TM = transmembraneous; IC = intracellular; EF = exofacial.

^‡The nucleic acid sequence data were deposited in EMBL under accession numbers HF549086 (DIV type 1.0), HF549087 (DIV type 3), HF549085 (DIV type 4), HF549083 (DWN), HF549084 (DNT). Hyodo et al.³⁵ have deposited AB037270 (cDNA of DIV type 5).

^§NA = not available.

^∥The 3’ breakpoint was confirmed (n = 6) as described previously.³¹