A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case

Table 2 An overview of the ESRRB mutations reported to date for non-syndromic autosomal recessive hearing loss

Nt change	Aa change	Exon position	Variation type	Zygosity	Domain	Severity	Country	Ref
c.16A>G	p.R6G	4	Missense	Homo/Hetero	N-terminal	ND	China	[33]
c.329C>T	p.A110V	4	Missense	Homo	DBD	S to P	Pakistan	[25]
c.499G>A	p.G167R	5	Missense	Homo	DBD	S to P	Iran	This study
c.733G>C	p.D245H	7	Missense	Homo	LBD	M to S	Pakistan	[31]
c.872G>T	p.R291L	8	Missense	Homo	LBD	P	The Cz.Rep	[32]
c.913T>C	p.Y305H	8	Missense	Homo	LBD	P	Tunisia	[28]
c.959T>C	p.L320P	8	Missense	Homo	LBD	S to P	Pakistan	[25]
c.1018_1020delGAG	p.E340del	8	Frame-shift	Homo	LBD	S to P	Pakistan	[30]
c.1018_1024dupGAGTTTG	p.V342GfsX44	8	Frame-shift	Homo	LBD	S to P	Turkey	[25]
c.1024G>T	p.V342L	8	Missense	Homo	LBD	S to P	Pakistan	[25]
c.1040T>C	p.L347P	8	Missense	Homo	LBD	S to P	Pakistan	[25]
c.1144C>T	p.R382C	9	Missense	ND	LBD	ND	China	[34]
c.1166C>T	p.T389M	9	Missense	Hetero	LBD	ND	Turkey	[25]
c.1058-3C>A	p.D353GfsX6	Donor site of exon 9	Splice site	ND	LBD	ND	The UAE	[35]

Nt nucleotide, AA amino acid, Homo homozygous, Hetero heterozygous, S severe, P profound, M moderate, ND not determined, DBD DNA-binding domain, LBD ligand-binding domain, UAE United Arab Emirates, CZ.Rep Czech Republic

ISSN: 1755-8794