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. Author manuscript; available in PMC: 2012 Feb 1.
Published in final edited form as: Transfus Apher Sci. 2011 Jan 28;44(1):81–91. doi: 10.1016/j.transci.2010.12.013

Table 1.

Representative molecular changes in RHD alleles expressing distinct phenotypes of the D antigen

classification
of antigen
variation
D antigen
Phenotype
molecular basis
representative example
novel Rhesus
antigen
protein variation Mechanisms RHD allele trivial name
partial D qualitative change amino acid substitution on the RBC surface missense mutation RHD(G355S) DNB Unknown
protein segment exchange on the RBC surface gene conversion (hybrid protein) RHD-CE(3–6)-D DVI type 3 BARC
weak D quantitative change amino acid substitution in the membrane or intracellularly missense mutation RHD(V270G) weak D type 1 Unknown
DEL major quantitative grossly reduced translation or missense mutation RHD(M295I) in CDe not applicable unknown
change protein expression mutation at splice site RHD(K409K) not applicable unknown
D negative D negative lack of protein expression gene deletion RHD-Deletion D negative unknown
nonsense mutation RHD(Y330X) not applicable unknown
Frame shift mutation RHD(488del4) not applicable unknown
modifying gene defect of RHAG gene Rhnull unknown
protein segment exchange on the RBC surface gene conversion (hybrid protein) RHD-CE(3–7)-D Cdes Unknown

antithetical antigens of the RhCE protein expression of antigen E or antigen e amino acid substitution on the RBC surface missense mutation at amino acid position 226 in RHCE RHCE allele: Ala226 coding antigen e Pro226 coding antigen E not applicable E versus e