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Table 2 Summary of the variants of SLC12A3 in the pedigree of Gitelman syndrome

From: Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes

Exon Nucleotide mutations Amino acid variants Variant type AF in 1000G gnomAD_exome Esp6500 PolyPhen-2 PROVEAN score Mutation Taster SIFT
3 c.433 C > T p.Arg145Cys missense ND 0.000012 0.000077 0.999 −7.139 (Deleterious) 0.9999 (Disease) 0
8 c.1077 C > G p.Asn359Lys missense 0.00019 ND ND 1.000 −5.706 (Deleterious) 0.9999 (Disease) 0
13 c.1666 C > T p.Pro556Ser missense ND 0.00002 ND 0.331 −7.03 (Deleterious) 0.9999 (Disease) 0.002
  1. ND not identified
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