The pathogenic Orai1 L138F mutation located in TM2 was identified using whole exome sequencing in a Japanese family with tubular aggregate myopathy (TAM) and was found to mediate STIM1-independent Ca2+ entry (Endo et al., 2015; Frischauf et al., 2017). This evidence concerns the gene ORAI1 and transient myeloproliferative syndrome.