RHD(L214F)-CE(7)-D

Structure

RHD(L214F)-CE(7)-D

Key changes from standard allele

640C>T (L214F)
Hybrid RHCE(7)

ISBT allele designation

No designation assigned

Nucleotide changes relative to "standard RHD"

c.[640 C>T;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]

Amino acid changes relative to standard protein

L214F, G314V, P323H, S325I, I327V, G329H, Y330S, N331I, I342T, D350H, G353W, A354N

Haplotype (typical)

not reported

Allele cluster

Eurasian D cluster

Descriptions

First submission to GenBank: 2018 MG190352 (submitted 2017-10-03, released 2018-03-17)

First full publication: 2018 Fichou Y et. al. Transfusion. 2018 Feb 25. doi: 10.1111/trf.14552.

ISBT group

Phenotype characterization and grouping

weakened D expression; Partial D

Serology

weakened D expression Fichou Y et. al. Transfusion. 2018 Feb 25. doi: 10.1111/trf.14552.

Observations

India (general): Fichou Y et. al. Transfusion. 2018 Feb 25. doi: 10.1111/trf.14552.

Additional comments

DIV-like gene conversion with additional single missense mutation; DIV-like phenotype expected

Last update: 2018-05-23 (yyyy-MM-dd)