Table 3. Disease-causing variants at the interface between BBSome subunits.

Only mutations that sit at the interface between BBSome subunits and likely have an influence on the stability of the complex have been analyzed.

BBS gene	mutation	phenotype	Reference
BBS1	L518P	BBS	Mykytyn et al., 2003
	N524Δ	BBS	Deveault et al., 2011
	R160Q	BBS, RP	Sharon and Banin, 2015; Deveault et al., 2011
	E224K	BBS	Redin et al., 2012
	R268P	BBS	Estrada-Cuzcano et al., 2012
	L288R	BBS	Muller et al., 2010
BBS4	N309K	BBS	Muller et al., 2010
BBS8	Q439H	BBS, RP	Ullah et al., 2017; Goyal et al., 2016
	Q445K	RP	van Huet et al., 2015
BBS9	Q325R	BBS	Chou et al., 2019
BBS18	L58*	BBS	Scheidecker et al., 2014