Variant: rs1228634091 

    present in Gene: HPRT1
    present in Chromosome: X
    Position on Chromosome: 134475225
    Alleles of this Variant: A/G

rs1228634091 in HPRT1 gene and Gout, HPRT-Related PMID 24940672 2014 Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

PMID 17027311 2007 Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.

PMID 20544509 2010 Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.

PMID 15571223 2004 Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.

PMID 2896620 1988 Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).

PMID 3198771 1988 Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.

PMID 2909537 1989 Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).

PMID 6853490 1983 Human hypoxanthine-guanine phosphoribosyltransferase.

PMID 6572373 1983 Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.

PMID 3358423 1988 Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.

PMID 6706936 1984 Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.

PMID 7987318 1994 Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.