Fig. 2
Protein domains and conservation of amino acids affected by missense variants. (A) Diagrammatic structure of MFSD8. Transmembrane domains and the variants identified in the current study (boxed) and the previous studies are shown. (B) The conservation of the amino acid altered due to the MFSD8 variant identified in family RDFA05 is shown by the alignment of diverse vertebrate orthologues of the human protein. The affected amino acid is boxed. (C) Different domains of AFG3L2 are illustrated. Variants associated with the recessively inherited spastic ataxia syndrome are shown. The variant identified in the family RDFA09 is boxed. (D) The absolute conservation of the amino acid altered due to the identified AFG3L2 variant in family RDFA09 is evident after alignment of orthologues proteins from different vertebrate lineages (E) Domains of SETX are shown with the identified frameshift variants associated with ataxia with oculomotor apraxia. The variant identified in the family RDFA11 is boxed. (F) Domains of GDAP1 are shown with the variants known to cause CMT disease. Nonsense variant identified in the family RDFA03, and the missense variant associated with disease in family RDFA04 are boxed. (G) The amino acid altered due to the missense variant of GDAP1, identified in the family RDFA04 is conserved in all vertebrate groups, except fish.
