Sickle Cell Disease Ontology Project

HBB, GLU6LYS

http://scdontology.h3abionet.org/ontology/SCDO_1000041

A mutation where the glutamic acid in position 6 in the primary sequence of a beta-chain produced by the HBB gene is replaced by lysine. This mutation results in the production of Hemoglobin C and confers resistance to malaria.