Table 2.

CNM mutations in Dynamin 2.

Mutation	Exon	Domain	Dominance	Severity	Disease onset	Hyperactivitya of dynamin	Reference of discovery
E368 K	8	Stalk (middle)	Dominant	Severe	Neonatal or childhood	Yes	Bitoun et al. (2005)
E368Q	8	Stalk (middle)	Dominant	Variable	Variable	[Not tested]	Echaniz-Laguna et al. (2007)
R369W	8	Stalk (middle)	Dominant	Mild	Adolescence or adulthood	Yes	Bitoun et al. (2005)
R369Q	8	Stalk (middle)	Dominant	Mild	Variable	[Not tested]	Bitoun et al. (2005)
F372C	8	Stalk (middle)	Dominant	Severe	Childhood	[Not tested]	Neto et al. (2015)
V375G	8	Stalk (middle)	Dominant	Severe	Neonatal	[Not tested]	Catteruccia et al. (2013)
R465W	11	Stalk (middle)	Dominant	Mild	Variable	Yes	Bitoun et al. (2005)
R522C	15	PH	Dominant	Mild	Variable	[Not tested]	Böhm et al. (2012)
R522H	15	PH	Dominant	Mild	Variable	[Not tested]	Susman et al. (2010)
R523G	15	PH	Dominant	Mild	Adulthood	[Not tested]	Böhm et al. (2012)
E540K	15	PH	Dominant	Severe	Adulthood	[Not tested]	Catteruccia et al. (2013)
E560K	16	PH	Dominant	Severe	Childhood	Yes	Bitoun et al., 2009a, Bitoun et al., 2009b
D614N	17	PH	Dominant	Mild	Adulthood	[Not tested]	Kierdaszuk et al. (2013)
A618D	17	PH	Dominant	Mild	Neonatal	[Not tested]	Melberg et al. (2010)
A618T	17	PH	Dominant	Severe	Neonatal	Yes	Bitoun et al. (2007)
S619L	17	PH	Dominant	Severe	Neonatal	Yes	Bitoun et al. (2007)
S619W	17	PH	Dominant	Severe	Neonatal	Yes	Bitoun et al. (2007)
L621P	17	PH	Dominant	Severe	Neonatal	[Not tested]	Bitoun et al. (2007)
ΔV625	17	PH	Dominant	Severe	Neonatal	Yes	Bitoun et al. (2007)
P627R	17	PH	Dominant	Intermediate	Neonatal or childhood	[Not tested]	Böhm et al. (2012)
P627H	17	PH	Dominant	Severe	Childhood	[Not tested]	Susman et al. (2010)
E650K	18	Stalk (GED)	Dominant	Mild	Childhood	Yes	Bitoun et al., 2009a, Bitoun et al., 2009b
Splice site mut.	17-18	PH-stalk (GED)	Dominant	Mild	Variable	[Not tested]	Böhm et al. (2012)

^aBasal activity and/or lipid-coupled activity.