Skip to main content

Table 4 The missense mutation of exon 19 of the SLC26A4 gene with clinical phenotype as pathogenicity

From: A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family

Nucleotide change Protein change Variant classification Phenotype Protein position Consequence
c.2141G > A p.Arg714Lys Pathogenic Hearing loss 714 missense_variant
c.2145G > T p.Lys715Asn Pathogenic Hearing loss 715 missense_variant
c.2153 T > C p.Phe718Ser Pathogenic Enlarged vestibular aqueduct 718 missense_variant
c.2162C > T p.Thr721Met Pathogenic Deafness, non-syndromic, autosomal recessive 721 missense_variant
c.2167C > G p.His723Asp Pathogenic Deafness, non-syndromic, autosomal recessive 723 missense_variant
c.2167C > T p.His723Tyr Pathogenic Enlarged vestibular aqueduct 723 missense_variant
c.2168A > G p.His723Arg Pathogenic Pendred syndrome 723 missense_variant
c.2170G > A p.Asp724Asn Pathogenic Pendred syndrome 724 missense_variant
c.2171A > G p.Asp724Gly Pathogenic Deafness, non-syndromic, autosomal recessive 724 missense_variant
c.2173G > C p.Ala725Pro Pathogenic Pendred syndrome/DFNB4 725 missense_variant
c.2179C > T p.Leu727Phe Pathogenic Enlarged vestibular aqueduct 727 missense_variant
c.2182 T > C p.Tyr728His Pathogenic Deafness, non-syndromic, autosomal recessive 728 missense_variant
c.2219G > T p.Gly740Val Pathogenic Enlarged vestibular aqueduct 740 missense_variant