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A novel mutation of the cytochrome-b5 reductase gene in an Indian patient: the molecular basis of type I methemoglobinemia.

Haematologica - 1 Nov 2006

Nussenzveig Roberto H, Lingam H Bindu, Gaikwad Amos, Zhu Qiqing, Jing Naijie, Prchal Josef T

Abstract excerpt

We report here a novel mutation in the cytochrome b5 reductase gene resulting in type I methemoglobinemia. A single T->C transition in exon 8 at position 25985 was identified, changing codon 217 from Leu to Pro (L217P). The mutation is located in the NADH binding domain at the base of alpha-helix Nalpha3, a region of sequence highly conserved from yeast to man. A quantitative assessment of the thermodynamic cost...

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PMID: 17082011

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