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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