Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis

Table 2 Properties of human c-Myc-NaPi-IIb constructs

Predicted location in the human NaPi-IIb protein*	Construct	³²Pi uptake	Expression
Predicted location in the human NaPi-IIb protein*	Construct	³²Pi uptake	WB	IC
	WT	+	+	+
Long EC-Loop (truncation of amino acids 304–690)	Lys304Ter	−	+	−
HP2b (mutation of amino acids 443–448 and truncation of amino acids 449–690)	Leu443fs	−	+	−
TM domain 5a	Thr468del	−	+	+
Short EC-Loop btw. TM domains 5b and 6 (truncation of amino acids 486–690)	Gln486Ter	−	+	−

btw between, EC extracellular, HP Hairpin, IC immunocytochemistry, TM transmembrane, VcINDY Na⁺-coupled dicarboxylate transporter from Vibrio cholera, WB Western blot (oocyte lysate), WT wild-type c-Myc-hNaPi-IIb, + positive, − negative; *The protein model is based on homology modelling with the bacterial dicarboxylate cotransporter VcINDY as template, adapted from the model of the predicted structure of human NaPi-IIa by Fenollar-Ferrer et al. [12]. SLC34A2 DNA reference sequence: Ensembl Transcript ID ENST00000382051.7 (GRCh38.p12 assembly)

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