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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

Fig. 3

Structure and conservation analysis of SUCLA2 variants (p.G326R, p.I312T). For each variant, p.G326R (a) or p.I312T (b), the location of the wild-type amino acid (red) and its network of interactions (light orange) are shown. Close residue-residue contacts are drawn with dashed lines. The “phosphate shuttle” loop is marked in dark orange [44]. The conservation pattern for each variant is represented below the structural models. The size of the letters reflects the degree of conservation

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