A missense mutation found in human lactate dehydrogenase-B (H) variant gene.
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Sudo K, Maekawa M, Ikawa S, Machida K, Kitamura M, Li SS
A missense mutation found in human lactate dehydrogenase-B (H) variant gene.
Biochem Biophys Res Commun. 1990 Apr 30;168(2):672-6.
- PubMed ID
- 2334429 [ View in PubMed]
- Abstract
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.