Figure 1. ATP5MC3 mutation and conservation analysis.
(A) c.318C>G mutation in exon 4 of ATP5MC3 resulting in (B) p.Asn106Lys substitution in the c subunit. (C) Electropherogram demonstrating heterozygous mutation near the start of exon 4. (D) ARNP motif conserved among c subunit genes APT5MC1–3, Drosophila, and bacteria including G. bethesdensis. Gln is substituted for Asn in S. simulans and E. coli.