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Missense variants of the TMEM67 gene in MKS and JBS. There were about 58 (likely) pathogenic missense variants in the TMEM67 gene identified thus far including 37 in JBS (green), 15 in MKS (red), and 6 in both (blue). The topology of TMEM67: a signal peptide (1–36 aa), a cysteine-rich region (50–187 aa), an extracellular area with unknown structure (188–526 aa), seven transmembrane regions (527–967 aa), and a short cytoplasmic tail (968–995 aa).
