Skip to main content
. 2022 Mar 21;31(16):2728–2737. doi: 10.1093/hmg/ddac066

Figure 3.

Figure 3

(A) Direct (Sanger) sequencing in trio shows the presence of the ELOC c.236A>G (p.Tyr79Cys) variant in the proband and absence from the parents. (B) Evolutionary conservation. Tyrosine at codon 79 (Y79) is evolutionary conserved across vertebrates and invertebrates (22). (C) ELOC domains. The Y79C variant (p.Tyr79Cys) is in the tetramerization domain of the ELOC gene (23). (D) ELOC Y79C-VHL interaction. Tyr79 mediates a hydrogen bond with Pro154 of VHL via a water molecule; adapted from (25). The X-ray crystallographic structure of the ELOC/VHL complex was downloaded from the Protein Data Bank (PDB:4WQO) (26). Molecules other than ELOC and VHL were removed from the structure for clarity.