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. 2020 Jun;6(3):a005033. doi: 10.1101/mcs.a005033

Figure 1.

Figure 1.

Pedigree, multiple species alignments of RAB3GAP2 protein, electropherogram, and RAB3GAP2 variants identified to date in WARBM/MS. (A) Pedigree of index patient and segregation of RAB3GAP2 variants identified in this report; (B) multispecies protein conservation of novel missense variant (p.Arg428Glu) found in index individual showing conservation from humans to zebrafish; (C) electropherograms of variants identified in this study; and (D) schematic of RAB3GAP2 protein showing MS-associated RAB3GAP2 variants identified in this report (shown above protein schematic; in green and blue) and RAB3GAP2 variants reported in the literature (shown below protein schematic). (Red) WARBM-associated variants, (black) MS-associated variants. The RAB3GAP2 protein domains were defined using Interpro (Mitchell et al. 2019) and Pfam (El-Gebali et al. 2019) resources.