Hb Famagusta—analysis of a novel δ-globin chain variant [HBD:c.60C>A] in four families with diverse globin genotypes

Table S1 HbA2 stability predictions for different δ-globin-variants. All δ-globin variants so far identified in Cyprus [1] carry amino-acid changes compared to the normal protein either in α-helices (T4I, G25D, A27S, R116C and L141P) or in a loop sequence at the interface of the α1δ1-α2δ2 heterodimers (V98M). Structure-based meta-analysis by iStable [2] was used to predict the stability of the novel δglobin N19K variant monomer for comparison with other Cypriot variants. According to the calculated ΔΔG value, the novel δ-globin variant is in Cyprus second in stability only to the δ-globin[T4I] mutation, which is positioned at the very start of the first δ-globin αhelix towards the flexible N terminus.