To access the data, click or select the words “Appendix 3.” Family Pedigree, sequencing chromatograms, SOPMA and Multiple Sequence Alignment (MSA) results for the novel mutation c.385C>G, p.L129V identified in MCD family 55. (A) Pedigree showing the male patient (filled black square with arrow, IV:1- proband), affected sibling (filled black square, IV:2) and parents (father-III:3; mother- III:4). Squares represent men and circles for women. Double line in the pedigree show consanguineous marriage and red star marks represents the subjects underwent CHST6 mutation screening. (B) Representative chromatograms for the normal control (wild-type genotype), MCD patient (IV:1) and his sibling (IV:2) harbor homozygous mutation c.385C>G (p.L129V) in CHST6 gene, while parents (III:3, III:4) carried mutation in heterozygous condition. (C) Secondary structure prediction by SOPMA (Self-Optimized Prediction Method with Alignment) tool. SOPMA predicted that the mutated protein (p.L129V) had altered secondary protein structure (i.e., increased alpha helix, decreased extended strand, increased beta turn, decreased random coil) when compared to the control, suggesting the formation of unstable protein. (D) Evolutionary conservation for the mutation p.L129V was assessed using ClustalW (1.2.2) MSA tool which showed the highly conserved nature of the leucine (L) amino acid residue at position 129 (marked in red box).