Figure 1. ARMC5 somatic or germline mutation distributions.
The location of the various mutations is shown on the ARMC5 protein described according to the variant NP_001098717 (http://www.ncbi.nlm.nih.gov/). The location of domains is according to UniProtKB (Uniprot Q96C12-1, http://www.uniprot.org/). Above, Germline mutations. Below, Somatic mutations and the two mutations found on somatic DNA for which germline or somatic level was not determinate (italic font with dotted line). °, Mutations described for several patients; each symbol represents one primary bilateral macronodular adrenal hyperplasia patient.