Table 1.

Studies in patient myocardium

Study	Number of unique mutations	Allelic Imbalance % mutant MYBPC3 mRNA	Haploinsufficiency %Total MYBPC3 protein compared to donors	p-value for MYBPC3 protein level	Protein detection method
Jacques et al. (2008)[34]	2	Not reported	76±4%	not reported	Immunoblot normalized to actin
Marston et al. (2009)[43]	5	~40%	76±3%	not reported	Immunoblot normalized to actin
Theis et al. (2009)[74]	7	Not reported	~200%	p<0.001	Immunoblot normalized to GAPDH
Van Dijk et al. (2009)[79]	2	~20%	67±5%	p<0.05	Immunoblot normalized to α-actinin
Van Dijk et al. (2012)[80]	4	Not reported	67±5%	p<0.0001	SDS-PAGE and SYPRO stain normalized to α-actinin
Van Dijk et al. (2014)[78]	3	Not reported	65±5%	not reported	SDS-PAGE and SYPRO stain normalized to α- actinin
Helms et al. (2014)[28]	15	16±3%	88±6%	not significant	Immunoblot normalized to GAPDH
McNamara et al. (2017)[47]	8	Not reported	~68%	p<0.05	Immunoblot normalized to α-actinin