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. 2021 May 10;13:80. doi: 10.1186/s13073-021-00891-1

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© The Author(s) 2021

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 2 — Locations of PAH-associated rare variants within FBLN2 and PDGFD protein structures. a Variants and conserved domains within two-dimensional protein structures. The numbers of variants at each amino acid position is indicated along the y-axes. D-MIS, predicted deleterious missense; LGD, likely gene-disrupting (stopgain, frameshift, splicing). FBLN2: ANATO, anaphylatoxin-like 2; EGF-ca, calcium-binding endothelial growth factor-like 1; EGF, non-calcium-binding EGF domain. PDGFD: CUB, complement subcomponent; PDGF/VEGF, platelet-derived growth factor/vascular endothelial-derived growth factor domain. b FBLN2 residues 858-900: p.(Gly880Val) and p.(Gly889Asp) change the conserved i+2 glycine residues of type II reverse turns within an EGF domain. Residues 981-1011: recurrent p.(Asp982Tyr) changes a residue within the highly conserved DXXE motif/calcium-binding site within an EGF domain. c PDGFD residues 43-180: p.(Asp148Asn) predicted to destroy the Ca++ binding site of the CUB domain. Residues 264-364: p.(Arg295Cys) disrupts a hydrogen bond and p.(Ser309Cys) may create a new disulfide bond in the PDGF/VEGF domain