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.