A missense mutation found in human lactate dehydrogenase-B (H) variant gene.
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.
Sudo
K
K
Laboratory of Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709.
Maekawa
M
M
Ikawa
S
S
Machida
K
K
Kitamura
M
M
Li
S S
SS
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000097:blood; D005091:Exons; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009206:Myocardium / Q000201:enzymology; D015183:Restriction Mapping
D004247:DNA; D007770:L-Lactate Dehydrogenase