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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8

Fig. 1

Twenty-five ACAD8 variants were identified in 40 patients with IBDD. A Twenty-five variants distributed in both the exons and introns of ACAD8. Black, variants detected in this study; grey, variants reported previously; *, novel variants identified in this study. B Distribution of 21 variants in the IBD protein domain, without the intron variants. C 12 novel variants in protein 3D-structure. Three novel splicing variants in introns and the MTS variant p. L2Vfs*40 were not illustrated. Referenced sequences for the ACAD8 gene, protein and structure are NM_014384.2, HUMAN NP_055199.1, and PDB entry, 1RX0, respectively

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172