The Korean Journal of Blood Transfusion : eISSN 2383-6881 / pISSN 1226-9336

Table. 1.

Table. 1.

Single nucleotide substitutions resulting in frameshift and nonsense mutations in exons 5 to 7 of the RHD gene

RHD mutationISBT allele designation numberExtended Rh phenotypeSerologic D-phenotypeAffected protein
660delGRHD*01N.29CeD negativep.Trp220Cysfs*9
697delGRHD*01N.82not reportedD negativep.Glu233Lysfs*13
702delGRHD*01N.83not reportedD negativep.Lys235Argfs*11
711delCRHD*01N.16cED negativep.Val238Cysfs*8
712delGRHD*01N.33CeD negativep.Val238Cysfs*8
786delARHD*01EL.13CeDELp.Lys264Argfs*24
822delGRHD*01N.48not reportedD negativep.Leu275Trpfs*13
915delCRHD*01N.49not reportedD negativep.Val306Serfs*53
950delARHD*01N.51not reportedD negativep.Asn317Thrfs*42
554G>ARHD*01N.14CeD negativep.Trp185*
598C>TRHD*01N.59not reportedD negativep.Gln200*
659delGRHD*01N.78not reportedD negativep.Trp220Cysfs*9
761C>GRHD*01N.62CeD negativep.Ser254*
767C>GRHD*01N.39CeD negativep.Ser256*
807T>GRHD*01N.18CeD negativep.Tyr269*
922G>TRHD*01N.52not reportedD negativep.Gly308Ter
933C>ARHD*01N.19CeD negativep.Tyr311*
933C>GRHD*01N.63not reportedD negativep.Tyr311*
952C>TRHD*01N.61CeD negativep.Arg318*
990C>GRHD*01N.21CeD negativep.Tyr330*
993delCRHD*01EL.28not reportedDELp.Phe332Serfs*27
1029C>ARHD*01N.40cED negativep.Tyr343*
Korean J Blood Transfus 2019;30:168-73 https://doi.org/10.17945/kjbt.2019.30.2.168
© 2019 Korean J Blood Transfus