single amino acid substitution in the APT1 domain of Vps13p corresponding to the I2771R mutation found in a human ChAc patient
List of references used specifically to curate the information in Overview section.
Rzepnikowska W, et al. (2017) Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate. Hum Mol Genet 26(8):1497-1510