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

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

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]
  1. 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
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BMC Medical Genomics

ISSN: 1755-8794

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