Fig. 6

Allelic variants in SLC34A2 in the literature marked on a model of NaPi-2b. Splice site variants and larger deletions (c.-6773_-6588del, the 5.5 kb deletion involving exons 2–6, c.380-345_ c.523+659del, c.524-18_559del, and the whole gene deletion) are not included in the figure. All variants are shown in the figure as dots. Light blue: missense variant, red: nonsense variant, dark blue: frameshift variant, yellow: in-frame deletion. The transmembrane (TM) domains with red color (TM domains 3–4 and 8–9) form the substrate coordination site. Areas for electrogenicity, regulation and targeting are found in the area between TM domains 4–5, 10–11, and at the C-terminal region [8, 107]. The model is made by superimposing human NaPi-2b on rat NaPi-2a predicted topology and is modified from Forster et al. 2013 [8] and Virkki et al. 2007 [96]. The protein sequences used for alignment in Clustal Omega version 1.2.4 [108]: Ensembl Transcript ID ENST00000382051.8 (Human (GRCh38.p13) assembly) and Ensembl Transcript ID ENSRNOT00000033749.6 (Rat (Rnor_6.0) assembly)