RHD-RHCE(4-7)-RHD2

Structure

RHD-RHCE(4-7)-RHD

Key changes from standard allele

Hybrid RHCE(4-7)

ISBT allele designation

RHD*01N.07

Nucleotide changes relative to "standard RHD"

c.[505 A>C;509 T>G;514 A>T;544 T>A;577 G>A;594 A>T;602 C>G;667 T>G;697 G>C;712 G>A;733 G>C;744 C>T;787 G>A;800 A>T;916 G>A;932 A>G;941 G>T;968 C>A;974 G>T;979 A>G;985 GG>CA;989 A>C;992 A>T;1025 T>C;1048 G>C;1053 C>T;1057 GGA>TGG;1060 GC>AA]

Amino acid changes relative to standard protein

M169L, M170R, I172F, S182T, E193K, K198N, T201R, F223V, E233Q, V238M, V245L, G263R, K267M, V306I, Y311C, G314V, P323H, S325I, I327V, G329H, Y330S, N331I, I342T, D350H, G353W, A354N

Haplotype (typical)

cDE

Allele cluster

Eurasian D cluster

Descriptions

Other relevant descriptions:
Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16.
cE-association Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38.

ISBT group

RHD negative

Phenotype characterization and grouping

D negative

Serology

D negative Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16.

Observations

South-Western Germany: Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16.
Tyrol: Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38.

Related Alleles

RHCE(1-9)-RHD [RHCE(1-9)-RHD]
RHD-RHCE(2-10) [RHD-RHCE(2-10)]
RHD-RHCe(2-7)-RHD [RHD-RHCE(3-7)-RHD]
RHD(L110P)-CE(3-9)-D [RHD(L110P)-CE(3-9)-D]
RHD(S68T)-RHCe(3-9)-RHD [RHD(S68T)-RHCE(3-9)-RHD]
RHD-RHCe(2-9)-RHD [RHD-RHCe(2-9)-RHD]
RHD-RHCe(2-9)-RHD1 [RHD-RHCE(3-9)-RHD]
RHD-RHCe(2-9)-RHD2 [RHD-RHCE(3-9)-RHD]
RHD-RHCE(4-7)-RHD [RHD-RHCE(4-7)-RHD]
RHD-RHCE(4-7)-RHD1 [RHD-RHCE(4-7)-RHD]
RHD-RHCE(4-8)-RHD [RHD-RHCE(4-7)-RHD]
RHD-RHCE(4-9)-RHD [RHD-RHCE(4-9)-RHD]

Additional comments

In this allele, the intron 7 partly derives from RHD and the substitution hence does not extend to exon 8. It is unknown whether this allele or RHD-RHCE(4-7)-RHD1 relates to the original description of RHD-RHCE(4-7)-RHD

Last update: 2012-03-27 (yyyy-MM-dd)