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1: Biochem Biophys Res Commun. 1990 Apr 30;168(2):672-6.Click here to read Links

A missense mutation found in human lactate dehydrogenase-B (H) variant gene.

Sudo K, Maekawa M, Ikawa S, Machida K, Kitamura M, Li SS.

Laboratory of Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709.

A human lactate dehydrogenase-B mutant gene was isolated from a genomic DNA library constructed from a patient with unstable LDH-B (heart) subunit. The nucleotide sequences of seven protein-coding exons were determined and a single nucleotide substitution of G by A at Arg codon CGC in exon 4 was found. This mutation results in an amino-acid replacement of a conserved arginine by histidine at the residue "173," which is involved in an anion-binding site at the P-axis of LDH subunits.

PMID: 2334429 [PubMed - indexed for MEDLINE]