Fig. 2From: A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavina Functional domains and regions in SLC52A2 gene as indicated. Red dots: missense mutations; Blue dots: nonsense mutations; Green dots: missense variants found in our patient. b Evolutionary conservation of cysteine residue at position 443 (shade in grey) in the SLC52A2 gene among speciesBack to article page