Ccdes-1

Structure

RHD(L62F,A137V,N152T)-RHCE(4-7)-RHD(G336C)

Key changes from standard allele

1006G>T (G336C)
186G>T (L62F)
410C>T (A137V)
455A>C (N152T)
Hybrid RHCE[245V](4-7)

ISBT allele designation

RHD*03N.01

Nucleotide changes relative to "standard RHD"

c.[186 G>T;410 C>T;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;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;1006 G>T;1025 T>C;1048 G>C;1053 C>T;1057 GGA>TGG;1060 GC>AA]

Amino acid changes relative to standard protein

L62F, A137V, N152T, M169L, M170R, I172F, S182T, E193K, K198N, T201R, F223V, E233Q, V238M, G263R, K267M, V306I, Y311C, G314V, P323H, S325I, I327V, G329H, Y330S, N331I, G336C, I342T, D350H, G353W, A354N

Haplotype (typical)

Ccde

Usually linked to ceS

Allele cluster

DIVa cluster

Descriptions

First full publication: 1994 Blunt T et. al. Vox Sang. 1994;67(4):397-401.

Other relevant descriptions:
First sequence characterization of Ccdes; A137V not mentioned Faas BH et. al. Transfusion. 1997 Jan;37(1):38-44. (submitted 1996-01-22)
A137V substitution recognized Daniels GL et. al. Transfusion. 1998 Oct;38(10):951-8. (submitted 1998-01-13)
KF515558 (submitted 2013-08-07, released 2014-03-24)

ISBT group

RHD negative

Phenotype characterization and grouping

D negative

Serology

Ccdes-1 - ceS encodes weak partial C, normal c, weak e, VS, Rh42. It does not produce D,V, hrB, HrB. Pham BN et. al. Transfusion. 2009 Mar;49(3):495-504.
D negative Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16.

Observations

Dutch Black population: Present in 12% (5 of 43) Daniels GL et. al. Transfusion. 1998 Oct;38(10):951-8. Frequency 1:8
South Africa (general): "hybrid exon 3" present in 14 of 100 samples (14%) Daniels GL et. al. Transfusion. 1998 Oct;38(10):951-8. Frequency 1:7
Brazaville and Teke groups: Allele frequency 0.04468 among D negative subpopulation (Ccdes-1 and Ccdes-2 not distinguished) Touinssi M et. al. Transfusion. 2009 Jul;49(7):1353-60. Frequency 1:20
Mali (general): 5 of 116 haplotypes (frequency 0.043) Wagner FF et. al. BMC Genet. 2003 Sep 24;4:14. Frequency 1:23
Tunisia (general): 2 samples among 448 D negative samples Moussa H et. al. Transfus Med. 2012 Mar 16. doi: 10.1111/j.1365-3148.2012.01142.x.
African American: SWiTCH trial Chou ST et. al. Blood Adv. 2017 Aug 3;1(18):1414-1422. doi: 10.1182/bloodadvances.2017007898. Frequency 1:0,065
South-Western Germany: Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16. Frequency 1:45.455

Additional comments

Last update: 2018-02-18 (yyyy-MM-dd)