RHD*01W.2.2 - RHD*weak D type 2.2
(ISBT table: Weak D and Del v5.0)
This entry is an RHD allele.
RHD(V306I,Y311C,G385A), RHD*916A,932G,1154C, RHD*916A,932G,1154C (weak D type 2.2), RHD*916G>A,932A>G,1154G>C, weak D type 2.2,
Molecular data
Nucleotides:
916G>A; 932A>G; 1154G>C;
Amino acids: V306I; Y311C; G385A;
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
- see also "Additional comments" section on the RhesusBase http://www.rhesusbase.info/RHDRHD(V306I,Y311C,G385A).htm
- substitution p.Y311C creates a potential palmitoylation site
Extracellular position of one or more amino acid substitutions:
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: weak D (last update: Nov. 17, 2019)Reports by D phenotype
Other RH phenotypes: RH:-2,
- RH:-2 inferred from the reported RHCE phenotypes of the carriers
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: cE (last update: Aug. 15, 2020)Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: no published cases (last update: Nov. 17, 2019)Detailed information
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: exceptional description(s), European Caucasian (last update: Dec. 22, 2019)Detailed reports
- 1/25 among 25 donor and prenatal patient samples from different countries with discrepancies between targeted genotyping (BloodChip, Progenika) and serology Caucasian
- 1/257 samples with RHD c.1154G>C mutation (typical of RHef00288) in the French population (Western France)
Allele or phenotype frequency
Structure mapping
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References
- International Society of Blood Transfusion et al. International Society of Blood Transfusion (ISBT) allele table Online ressource, 1935. — Online ressource — [RHeference]
- Hartel-Schenk S et al. Mammalian red cell membrane Rh polypeptides are selectively palmitoylated subunits of a macromolecular complex. J Biol Chem, 1992. [Citation] [RHeference]
- Wagner FF and Flegel WA et al. The Human RhesusBase Online ressource, 2011. — Online ressource — [RHeference]
- Garcia F et al. New RHD variant alleles. Transfusion, 2015. [Citation] [RHeference]
- Raud L et al. Weak D type 1, 2 and 3 subtype alleles are rare in the Western French population. Transfus Med, 2019. [Citation] [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
Last update: Sept. 17, 2019