RHD(S68T)-RHCe(3-9)-RHD

Structure

RHD(S68T)-RHCE(3-9)-RHD

Key changes from standard allele

203G>C (S68T)
Hybrid RHCE(3-9)

ISBT allele designation

RHD*01N.04

Nucleotide changes relative to "standard RHD"

c.[203 G>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

S68T, 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

Haplotype (typical)

CDe

Allele cluster

Eurasian D cluster

Descriptions

First submission to GenBank: 2005 AJ633649 (submitted 2004-03-22, released 2005-03-25)

First full publication: 2005 Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38.

Other relevant descriptions:
AJ633650 (submitted 2004-03-22, released 2005-03-25)
AJ633651 (released 2005-03-25)

ISBT group

RHD negative

Phenotype characterization and grouping

D negative

Serology

No data

Observations

China (general): Shao CP et. al. Vox Sang. 2002 Aug;83(2):156-61. Frequency 1:481
Korea (south, general): 4.2% of D negative alleles in Koreans Kim JY et. al. Transfusion. 2005 Mar;45(3):345-52.
Ljubljana region: Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38. Frequency 1:911
South-Western Germany: Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16. Frequency 1:5.682
Tyrol: Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38. Frequency 1:640

Additional comments

The PCR pattern of this allele is identical to RHD-RHCe(2-9)-D2.

Last update: 2018-02-25 (yyyy-MM-dd)