Skip to main content

Table 2 Representative gene mutations involved in urate metabolism found in this case

From: Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion

Gene

Zygosity

Read count

Read coverage

Mutation

Amino acid change

SNV

SLC22A12

Heterozygous

49

109

G > A

Glu110Lys

 

SLC22A12

Homozygous

129

129

G > A

Trp258*

rs121907892

SLC2A9

Heterozygous

19

34

C > T

Gly25Arg

rs2276961

SLC2A9

Heterozygous

84

190

C > T

Arg265His

rs3733591

ABCG2

Heterozygous

35

83

G > T

Gln141Lys

rs2231142

SLC17A1

Homozygous

26

26

G > A

Thr269Ile

rs1169288