DFR-1

Structure

RHD-RHCE(4:505-4:514)-RHD

Key changes from standard allele

Hybrid RHCE(4:505-4:514)

ISBT allele designation

RHD*17.01
RHD*DFR1

Nucleotide changes relative to "standard RHD"

c.[505 A>C;509 T>G;514 A>T]

Amino acid changes relative to standard protein

M169L, M170R, I172F

Haplotype (typical)

multiple

Allele cluster

Eurasian D cluster

Descriptions

First submission to GenBank: 2007 AM491132 (submitted 2007-01-11, released 2007-07-30)

First full publication: 1995 Rouillac C et. al. Blood. 1995 May 15;85(10):2937-44.

Other relevant descriptions:
Usually associated with CDe, sometimes with cDE. Ce-associated, but not cE-associated alleles carry an IVS5-38del4 substitution. von Zabern I & Flegel WA Transfusion. 2007 Aug;47(8):1552-5.

ISBT group

partial RHD

Phenotype characterization and grouping

Partial D

Serology

No data

Observations

South-Western Germany: von Zabern I & Flegel WA Transfusion. 2007 Aug;47(8):1552-5.
China (general): EU093080

Related Alleles

Ccdes-1 [RHD(L62F,A137V,N152T)-RHCE(4-7)-RHD(G336C)]
Ccdes-2 [RHD-RHCE(4-7)-RHD(G336C)]
DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D [DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D]
DVI type 2 [RHD-RHCE(4-6)-RHD]
RHD(A137V,N152T)-CE(4-6)-D(7-10) [RHD(A137V,N152T)-CE(4-6)-D(7-10)]
DVI type 1 [RHD-RHcE(4-5)-RHD]
DFR-3 [RHD-RHCE(4:505-4:514)-RHD(G180A)]
DFR-2 [RHD-RHCE(4)-RHD]
DFR-5 [RHD-RHCE(3-4)-RHD]
DHAR [RHCE-RHD(5)-RHCE]
DVI type 4 [RHD-RHCE(3-5)-RHD]
DVI type 3 [RHD-RHCE(3-6)-RHD]
DVI type 3.2 [RHD-RHCE(3-6)-RHD(A399T)]
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(4-7)-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]
RHD-RHCE(2-5)-RHD [RHD-RHCE(2-5)-RHD]

Additional comments

Usually associated with CDe, sometimes with cDE. Ce-associated, but not cE-associated alleles carry an IVS5-38del4 substitution

Last update: 2014-05-14 (yyyy-MM-dd)