DFV.1

Structure

RHD(F223V)

Key changes from standard allele

667T>G (F223V)
819G>A

ISBT allele designation

No designation assigned

Nucleotide changes relative to "standard RHD"

c.[667 T>G;819 G>A]

Amino acid changes relative to standard protein

F223V, A273A

Haplotype (typical)

cDe

Allele cluster

weak D type 4 cluster

Descriptions

First submission to GenBank: 2013 KF574439 (submitted 2013-08-22, released 2013-11-07)

First full publication: 2014 Garcia F et. al. Transfusion. 2015 Feb;55(2):427-9.

Other relevant descriptions:
KF861932 (submitted 2013-11-15, released 2014-02-15)

ISBT group

Phenotype characterization and grouping

weakened D expression

Serology

weak D Garcia F et. al. Transfusion. 2015 Feb;55(2):427-9.

Observations

Spain (general): Garcia F et. al. Transfusion. 2015 Feb;55(2):427-9.

Related Alleles

DIII type 5 [RHD(L62F,A137V,N152T,T201R,F223V)]
DIII type 6 [RHD(A137V,N152T,T201R,F223V,A273A)]
DIII type 7 [RHD-RHCE(2)-RHD(A137V,N152T,T201R,F223V)]
DIIIa150C [RHD(150T>C,L62F,A137V,N152T,T201R,F223V,819G>A)]
weak D type 4.4 [RHD(K198N,T201R,F223V)]
RHD(T201R,F223V,G307R) [RHD(T201R,F223V,G307R)]
weak D type 4.5 [RHD(T201R,F223V,G355S)]
RHD(T201R,F223V,K264N,A273A) [RHD(T201R,F223V,K264N,A273A)]
RHD-RHCE(3)--weak D type 4.0 [RHD-RHCE(3)-RHD(T201R,F223V,819G>A)]
weak D type 4.0 [RHD(T201R,F223V)[819G>A]]
weak D type 4.1 [RHD(W16C,T201R,F223V)]
weak D type 4.3 [RHD(T201R,F223V,P291R)[819G>A]]

Additional comments

This allele differs from DFV by an additional 819G>A substitution. In addition, several intron polymorphisms are documented.Initially, the haplotype was reported as "CcDee" and assumed CDe (KF574439), a second sample revealed cDe.

Last update: 2015-03-10 (yyyy-MM-dd)