Fig. 3: Summary of findings in ATP7A.
From: Genetic etiology of progressive pediatric neurological disorders
a ATP7A protein with domains according to Uniprot, and previously reported disease-causing variants, with exons indicated below the linear graph. The vertical axis depicts the number of patients found in literature. Protein level consequences shown for truncating variants in exons 2–7. Our novel variant p.Q138X resides on the 3rd exon, on the second Heavy-Metal Associated ___domain. References for the gene review can be found in supplementary information. b Protein conservation through species of amino acid residue p.Gln138 (yellow shade) and previously reported variants (blue shade). c Family pedigree: the affected proband was hemizygote for the variant carried by the mother, while all other maternal relatives alive were not carries. d Sanger sequencing results of the proband, parents, maternal uncle, and grandfather. The mother is a heterozygote carrier of the X-chromosomal c.412 C > T variant, while the affected proband’s genotype is hemizygote.
