Table II.

MAFB Mutations Causing MCTO

Mutation	# Probands	Reference
c.161C>G, p.Ser54Trp	1	Mehawej et al., 2013
c.161C>T, p.Ser54Leu	2	Zankl et al., 2012; Zankl et al., 2014
c.167C>T, p.Ser56Phe	1	Dworschak et al., 2013
c.176C>T, p.Pro59Leu	3	Mumm et al.; Mehawej et al., 2013; Zankl et al., 2012
c.184A>C, p.Thr62Pro	1	Zankl et al., 2012
c.185C>T, p.Thr62Ile	1	Mumm et al.
c.188C>G, p.Pro63Arg	2	Mehawej et al., 2013; Zankl et al., 2012
c.188C>T, p.Pro63Leu	2	Mehawej et al., 2013
c.194G>T, p.Ser65Ile	1	Mehawej et al., 2013
c.197C>G, p.Ser66Cys	1	Zankl et al., 2012
c.206C>T, p.Ser69Leu	5	Mumm et al.; Zankl et al., 2012
c.208T>G, p.Ser70Ala	1	Zankl et al., 2012
c.209C>T, p.Ser70Leu	3	Mumm et al.; Zankl et al., 2012
c.211C>T, p.Pro71Ser	3	Mumm et al.; Zankl et al., 2012
c.212C>T, p.Pro71Leu	1	Zankl et al., 2012