The Scientific World Journal

Research Article

Human SLC26A1 Gene Variants: A Pilot Study

Table 2

SLC26A1 sequence variants identified in a cohort of recurrent calcium oxalate stone formers.
  aIndividuals with recurrent calcium oxalate kidney stones
Sequence variantABC bDEFGHIJKLM
Coding nonsynonymous              
c.395T>C, p.M132T−−−+−−−−−−−−−
c.1115G>A, p.R372H−−−−−−−−−−−+−
c.1667A>G, p.Q556R−++−++++−−−−+−+
Coding synonymous              
c.675C>A, p.T225T−−−−−+−−−−−−+
c.918G>A, p.S306S−+−−+++−−−+−+
c.1315C>A, p.R439R−−−+−−−−−−−−−
c.1875C>T, p.A625A−+−−+++−−−+−+
Untranslated region c             
g.977205C>T+−+−−−+−−−−+−
Flanking region c             
g.977276A>G−+++++−+++−+−−
g.977343C>A−+−++−+++−+−−
g.977391G>C−−−−+−++−−+−−
g.977420C[6]−−−−−−+−−−−−−
aThe genotypes of thirteen individuals (A–M) are indicated as + (heterozygous) or ++ (homozygous) for each sequence variant. bIndividual (D) with severe nephrocalcinosis requiring left nephrectomy. cGenomic DNA reference NT_037622.5.