RHCE(1-9)-RHD

Structure

RHCE(1-9)-RHD

Key changes from standard allele

Hybrid RHCE(1-9)

ISBT allele designation

RHD*01N.02

Nucleotide changes relative to "standard RHD"

c.[150 T>C;178 A>C;201 G>A;203 G>A;307 T>C;361 T>A;380 T>C;383 A>G;455 A>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;1170 T>C;1193 A>T]

Amino acid changes relative to standard protein

, I60L, S68N, S103P, L121M, V127A, D128G, N152T, 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, E398V

ISBT group

RHD negative

Phenotype characterization and grouping

D negative

Haplotype (typical)

cDE

Allele cluster

Eurasian D cluster

Descriptions

First full publication: 2001 Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16.

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.

Related Alleles

RHD-RHCE(2-10) [RHD-RHCE(2-10)]

Additional comments

This allele has be defined as a PCR pattern only, the full sequence has not been established. RHD-specific polymorphisms were found in the 3â?? untranslated region of exon 10 only and were lacking in the promoter region, exons 2, 3, 4, 5, 6, 7 and 9.

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