RHD*510insG
(ISBT table: not listed)
This entry is an RHD allele.
RHD*510insG, RHD*511insG,
Molecular data
Nucleotides:
510insG;
Amino acids: H171Afs*28;
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
- no other mutation in the 10 RHD exons and flanking intronic regions
- D antigen expression is unexpected and not understood
Extracellular position of one or more amino acid substitutions:
- No RhD protein is expected to be produced. However a DEL or D positive phenotype has been reported (see Phenotype section), implying the contrary. The resulting antigen may have an altered conformation.
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: DEL (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: Jan. 8, 2021)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), in the Australian population (last update: Dec. 22, 2019)Structure mapping
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Slab | Ctrl+Second | Not Available |
References
- Lopez GH et al. Genotyping by sequencing defines independent novel RHD variants for an antenatal patient and a blood donor. Transfusion, 2017. [Citation] [RHeference]
- Stef M et al. RH genotyping by nonspecific quantitative next-generation sequencing. Transfusion, 2020. [Citation] [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
Last update: Jan. 8, 2021