The Hb S (sickle cell) variant and Hb C variant are both single point mutations in the gene for beta globin (HBB) that cause a single amino acid change in the beta globin chain. In the heterozygous states, each of these variants causes an essentially asymptomatic carrier state. Homozygosity for Hb S and compound heterozygosity for Hb S plus Hb C cause sickle cell disease. Homozygosity for Hb C causes Hb C disease.
(A) DNA sequence differences.
(B) mRNA sequence differences.
(C) Differences in protein sequence. Each yellow box represents one amino acid. Hb S is designated p.Glu7Val. Hb C is designated p.Glu7Lys.
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