causes or contributes to condition contributes to genotype causes or contributes to molecular phenotype Other HBB Variants Hemoglobin S-South End HBB, LYS132ASN Hb Yamagata Mutation Contributing Beta S-South End Mutation A mutation where the lysine residue in position 132 in the primary sequence of a beta-chain produced by the HBB gene is replaced by asparagine. This mutation on its own produces Hb Yamagata which has reduced oxygen affinity, but no distinctive clinical abnormalities. However, when present in the same gene as the Hb S mutation (HBB, GLU6VAL), the sickling HbS-South End is produced. Request inclusion into relevant ontology Contributing Hb S-South End Mutation LYS132ASN Negligable SCDO (Jade Hotchkiss) Hemoglobin Genotype S/S-South End Sickle Cell Disease-S/S-South End