RHD*1153+6C
(ISBT table: not listed)
This entry is an RHD allele.
RHD(IVS8+6T>C), RHD*1153+6C, RHD*1153+6C (IVS8+6C), RHD*1153+6T>C, RHD*c.1153+6T>C,
Molecular data
Nucleotides:
intronic 1153T>C;
Amino acids: 0;
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
Extracellular position of one or more amino acid substitutions:
- Silent or intronic mutations: none of the mutations are predicted to affect an extracellular amino acid.
Splicing:
- splice site mutation
- minigene splicing assay demonstrates that Exon 8 is significantly excluded from the mature transcript; nonetheless, a full-lentgh mature transcript was also detected; authors conclude that it is a splicing variant affecting D antigen expression quantitatively but not qualitatively
Unconventional prediction methods:
Phenotype
Main D phenotype: weak D (last update: June 12, 2020)Reports by D phenotype
- Weak D phenotype
- "weak/partial" phenotype but heterozygous with RHef00122
Other RH phenotypes: RH:-3,
- RH:-3 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: several haplotypes reported (last update: Dec. 9, 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), in the Thai and Portuguese populations (last update: June 12, 2020)Structure mapping
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References
- Pereira J et al. Novel human pathological mutations. Gene symbol: RHD. Disease: reduced expression (weak D). Hum Genet, 2009. [Citation] [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
- Thongbut J et al. Comprehensive Molecular Analysis of Serologically D-Negative and Weak/Partial D Phenotype in Thai Blood Donors. Transfus Med Hemother, 2020. [Citation] [RHeference]
Last update: June 12, 2020