RHD(T201R)-CE(5)-D(I342T)

Structure

RHD(T201R)-CE(5)-D(I342T)

Key changes from standard allele

1025T>C (I342T)
602C>G (T201R)
Hybrid RHCE(5)

ISBT allele designation

No designation assigned

Nucleotide changes relative to "standard RHD"

c.[602 C>G;667 T>G;697 G>C;712 G>A;733 G>C;744 C>T;787 G>A;800 A>T;1025 T>C]

Amino acid changes relative to standard protein

T201R, F223V, E233Q, V238M, V245L, G263R, K267M, I342T

ISBT group

Phenotype characterization and grouping

weakened D expression; Partial D

Haplotype (typical)

not reported

Allele cluster

weak D type 4 cluster

Descriptions

First submission to GenBank: 2018 MG190351 (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.

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.

Related Alleles

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]

Additional comments

DV-like gene conversion in a weak D type 4.2 background

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