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Distribution across the TMEM67 gene of missense mutations so far identified in patients with lethal (MKS) and non-lethal (JSRD, NPH and ARPDK-like) phenotypes. Correspondence between TMEM67 exons and predicted meckelin domains is depicted at the bottom. SP: signal peptide; CR: cystein rich domain; TM1-2-3: transmembrane segments; CC: coiled coil domain; the dashed box indicates the extracellular region of meckelin encoded by exons 8 to 15.
