rs121912762
This is a variant in the RHD gene that changes a leucine to an proline.
▶ClinVar annotation
Hemolytic disease of fetus and newborn, RH-induced; RhD category D-VII
View on ClinVar →▶Research that mentions this SNP (1)
▶Leu110Pro substitution in the RhD polypeptide is responsible for the DVII category blood group phenotypeFunctionalN=3Christelle Rouillac et al.(1995)· American Journal of Hematology
The D"" category blood group phenotype is caused by a single point mutation (T329C) in exon 2 of the RHD gene, resulting in a Leu110Pro amino acid substitution in the RhD polypeptide. This mutation is associated with lack of the epD8 epitope and expression of the Rh40 antigen. The structural analysis suggests residue 110 is located in the second extracellular loop of RhD, implicating it in the D epitope structure.
About RHD
The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all RHD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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