Table 3. Mutations in ARL6 associated with BBS or retinitis pigmentosa (RP) that are mapped onto the structure in Figure 7a.

The mapped disease-associated mutations in core BBSome subunits are provided as a supplemental table in Chou et al. (2019).

Gene	Protein mutation	Phenotype	Reference
ARL6	T31M	BBS	(Fan et al., 2004)
ARL6	T31R	BBS	(Fan et al., 2004)
ARL6	A89V	RP	(Aldahmesh et al., 2009)
ARL6	I91T	BBS	(Chandrasekar et al., 2018)
ARL6	I94T	RP	(Khan et al., 2013)
ARL6	G169A	BBS	(Young et al., 1998)
ARL6	L170W	BBS	(Fan et al., 2004)