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Fig. 4 | BMC Neurology

Fig. 4

From: A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4

Fig. 4

a The amino acid residues of ISCA2 colored based on conservation scores produced by ConSurf database and presentation of all mutations that have been reported to date. (p.Gly77Ser) reported by Al-Hassnan et al. as the first mutation in ISCA2 (Grey Box). (p.Phe99Leufs*18/p.Ser112Gly) reported by Toldo et al. as the second mutation (Black Boxes). (p.Ala119Thr) found by our investigation in an Iranian family (White Box). b Secondary structure prediction and comparison of Wild-Type and Mutant ISCA2 protein and presentation of Pfam domain which is involved in Fe-S clusters biosynthesis. In-silico prediction shows that the (p.Ala119Thr) mutation eliminates Helix motif in this area

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BMC Neurology

ISSN: 1471-2377

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