From: Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis
Predicted location in the human NaPi-IIb protein* | Construct | 32Pi uptake | Expression | |
---|---|---|---|---|
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 | − | + | − |