Fig. 6

Reported ASPA gene variants. A The pathogenic and likely pathogenic ASPA variants reported in Simple ClinVar (https://simple-clinvar.broadinstitute.org/) [302] distributed between the indicated types of variants. Note that the missense variants represent the largest single class of variants. B Localization of the pathogenic and likely-pathogenic (red) missense variants and benign (green) missense variants on the ASPA primary structure. Note that these are roughly evenly distributed and do not cluster to specific regions. C Of the missense variants, most (45%) are pathogenic or likely pathogenic (red), while 12% are benign or likely benign (green), and the remaining (43%) are variants of uncertain significance (VUS) (grey)