However, the distribution of missense mutations in THBS1 did not clearly identify specific residues or regions of the protein that mediate an essential function, apart from variants previously identified through genome-wide association studies linking a polymorphism in THBS1 with early myocardial infarction and altered calcium binding (Topol et al. 2001; Carlson et al. 2008). The gene discussed is THBS1; the disease is myocardial infarction.