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. 2024 Apr 25;10(3):e200152. doi: 10.1212/NXG.0000000000200152

Figure 1. Investigation of Biallelic PI4KA Variants in a Family With Hereditary Spastic Paraparesis.

Figure 1

(A) Cosegregation of PI4KA variants with disease in the family. Proband indicated with a red arrow. Individuals whose DNA underwent genome sequencing is marked with an asterisk (*). (B) Sequence chromatograms of the c.3883C>A and c.5785A>C variants for all members in the family with available DNA. (C) Multiple sequence alignment of PI4KA orthologs across multiple species. Identical amino acid residues at His1295 and Thr1929 residue positions are highlighted in blue. Amino acids that are different to the human amino acid but with similar chemical properties are highlighted in yellow. UniProt accession codes for PI4KA orthologs provided in eTable 1. (D) Linearized protein schematic of PI4KA (N-terminus to C-terminus), annotated with known protein domains, variants identified in this study (red) and previously identified variants (black, missense; blue, nonsense or frameshift variants).3-5 a.a. = amino acid.