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. 2020 Sep 8;11(9):1060. doi: 10.3390/genes11091060

Figure 3.

Figure 3

Schematic representation of RMND1 gene and protein organization. Gene and protein structure is depicted based on the canonical transcript NM_017909.4 and reference protein sequence NP_060379.2. Previously reported RMND1 pathogenic variants involved in development of combined oxidative phosphorylation deficiency (COXPD11) are written in black. Variants identified in this study are shown in red. Bolded are variants involved in the development of Perrault syndrome (PRLTS) with renal involvement. Abbreviations: MLS, mitochondrial localization sequence; DUF155, domain of unknown function; CC, coiled-coil; TM, transmembrane.