Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout

Table 3

Current occurrence of allelic variants in different transporters in the patient cohort.

Variants in other genes

Gene

ABCG2

SLC2A9

SLC2A9

SLC2A9

SLC2A9

SLC17A1

SLC17A3

SLC17A3

SLC22A8

ABCC4

ABCC4

ABCC4

ABCC4

SLC22A12

SLC22A12

SLC22A12

SLC22A12

SLC22A12

Reference SNP number

rs2231142

rs2276961

rs16890979

rs3733591

rs2280205

rs1165196

rs1165165

rs56027330

rs45566039

rs11568658

rs2274406

rs1678339

rs1751034

rs3825017

rs3825016

rs11231825

rs1630320

rs7932775

AA change

p.Q141K

p.G25R

p.V282I

p.R294H

p.P350L

p.T269I

p.A100T

p.G279R

p.R149C

p.G187W

p.R317S

p.L904F

p.K1116N

p.N82 =

p.H86 =

p.H142 =

p.A416 =

p.L437 =

Variants in SLC22A11, SLC22A13, and SLC17A1

p.P519L (Patient 1)

HM

HT

HT

wt

HM

wt

wt

wt

wt

wt

HM

HM

HM

wt

HT

HT

HM

HT

p.V202M (Patient 2)

wt

HM

wt

HT

wt

wt

wt

wt

wt

wt

HM

HM

HM

wt

HT

HT

HM

HT

p.R343L (Patient 3)

HM

HT

wt

HT

HT

HT

wt

wt

wt

wt

HM

HM

HM

wt

HT

HT

HM

wt

p.R16H (Patient 4)

wt

HM

wt

wt

HM

HT

wt

wt

HT

wt

HT

HM

wt

wt

wt

wt

HM

HM

p.R16H (Patient 5)

wt

HM

wt

HT

wt

wt

wt

wt

wt

wt

HM

HM

wt

wt

HM

HM

HM

wt

p.R102H (Patient 6)

HT

HM

wt

HT

HM

HT

HT

HT

wt

wt

wt

HM

HM

wt

wt

wt

HM

HM

p.W75C (Patient 7)

wt

HM

wt

HT

HT

HT

HT

wt

wt

HT

HM

HM

HM

wt

wt

wt

HM

HT

Only in this, seven patients were detected this new allelic variants, but some other allelic variants in other urate transport proteins, which was described in the previous works. Wt, wildtype; HM, homozygous; and HT, heterozygous.