Figure 5 | Scientific Reports

Figure 5

From: NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model

Figure 5

Details of the NDUFS7:c.535G > A variant (p.Val179Met). (A) Multiple-species alignment of the NDUFS7 amino acid sequences near the V179M variant. The variant affects a highly conserved valine residue. Accession numbers: dog (Canis familiaris) XP_038423929.1; human (Homo sapiens) NP_077718.3; mouse (Mus musculus) NP_083548.1; chicken (Gallus gallus) XP_001234054.3; frog (Xenopus tropicalis) NP_001072396.1; zebrafish (Danio rerio) NP_001186841.1; fruit fly (Drosophila melanogaster) NP_727921.1; roundworm (Caenorhabditis elegans) NP_492445.1; Japanese rice (Oryza sativa Japonica Group) NP_001056143.2. (B) Representative electropherograms of a wildtype dog, a heterozygous carrier, and an affected dog. The amino acid translations of the wildtype and mutant alleles are indicated. (C) Pedigree of the Jack-Chi dogs with Leigh syndrome. Affected dogs are indicated with filled symbols. Genotypes at the NDUFS7:c.535G > A variant are indicated for all dogs, from which a DNA sample was available.

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