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Figure 1 | BMC Medical Genetics

Figure 1

From: Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9compound heterozygosity

Figure 1

Molecular characterization of the patient. Left panel: Sequence chromatogram showing the position of the heterozygous c.646G>A transition (NM_020041.2, GLUT9L, exon 7) corresponding to c.559G>A (NM_00100290.1, GLUT9S, exon 7), leading to the p.Gly216Arg missense mutation (NP_064425.2, GLUT9L) corresponding to p.Gly187Arg (NP_001001290.1, GLUT9S). Right panel: Sequence chromatogram with the position of the heterozygous c.1138C>T transition (NM_020041.2, GLUT9L, exon 11) corresponding to c.1051C>T (NM_00100290.1, GLUT9S, exon 11), leading to the p.Arg380Trp missense mutation (NP_064425.2, GLUT9L, corresponding to p.Arg351Trp (NP_001001290.1, GLUT9S). Mutations are annotated according to HGVS nomenclature (http://www.hgvs.org/mutnomen). Nucleotide numbering is based on cDNA sequence numbering, with +1 corresponding to the A of the ATG translation initiation codon 1 in the reference sequence. For protein numbering, +1 corresponds to the first translated amino acid.

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BMC Medical Genetics

ISSN: 1471-2350

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