TABLE 1.

Mutations in otoferlin C2 domains that cause hearing loss in humans and mice

Pathogenic, single nucleotide changes that cause missense mutations in the corresponding amino acid sequences are shown. Amino acid numbering is based on human and mouse sequences reported in the corresponding references. It is notable that DFNB9 hearing loss in humans is caused mainly by mutations in the C2C–C2F domains; human pathogenic mutations in the C2A and C2B domains have not been described. For mouse, the listed C2B and C2F domain mutations were induced.

C2 domain	Pathogenic mutations	Deafness	Organism	Ref.
C2A	None
C2B	I318N	Deaf	Mouse	63
C2C	P490Q	Deaf	Human	64
	I515T	Deaf	Human	64
C2D	L1011P	Deaf	Human	65
C2E	R1520Q	Deaf	Human	67
	R1607W	Deaf	Human	67
C2F	E1733K	Deaf	Human	68
	F1795C	Deaf	Human	69
	E1804dela	Deaf	Human	66
	P1852A	Deaf	Human	20
	R1856Q	Deaf	Human	68
	D1767G	Deaf	Mouse	16

^a Temperature-induced hearing loss.