RHD-RHCE(4-7)-RHD1

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.

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. Frequency 1:18.036

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)-RHD2 [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, intron 7 derives from RHCE and the substitution may extend to exon 8. It is unknown whether this allele or RHD-RHCE(4-7)-RHD2 relates to the original description of RHD-RHCE(4-7)-RHD

Last update: 2012-03-25 (yyyy-MM-dd)