Supplemental Data- Detailed Methodology. Detailed description of methods presented in the manuscript. Figure S1. Sanger Sequencing. Description and traces of sanger confirmation of B3GAT3 variants. Figure S2. Computational Analysis of p.L224Q Variant. Computational modeling of wild-type and B3GAT3 p.L224Q variant, including amino acid conservation. Figure S3. Nucleotide and deduced amino acid sequences from the wild-type of the human GlcAT-I. Summary of potential alternative start codons within B3GAT3. Figure S4. Nucleotide and deduced amino acid sequences from the mutants of human GlcAT-I. Summary of putative variant proteins #1-8 in B3GAT3. Table S1. qPCR primers for GlATc-I mRNA Expression in Primary fibroblasts. Table of qPCR primer sequences. Table S2. The deduced molecular masses of the GFP-tagged wild-type GlcAT-I and the mutant proteins (mutants #1â ~â 8). Summary of predicted molecular weight of mutant proteins. Table S3. Primers for construction of the GFP-tagged hGlcAT-I expression vectors. PCR Primers for construction of vectors. Table S4. Phenotype Comparison of reported patients with B3GAT3 related disease. Phenotypic comparison of published patients with B3GAT3-related disease. (DOCX 736 kb)