Article
A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.
Molecular genetics and metabolism - 1 Jun 1999
Bross P, Pedersen P, Winter V, Nyholm M, Johansen B N, Olsen R K, Corydon M J, Andresen B S, Eiberg H, Kolvraa S, Gregersen N
Abstract excerpt
The consequences of two amino acid polymorphisms of human electron transfer flavoprotein (alpha-T/I171 in the alpha-subunit and beta-M/T154 in the beta-subunit) on the thermal stability of the enzyme are described. The alpha-T171 variant displayed a significantly decreased thermal stability, whereas the two variants of the beta-M/T154 polymorphism did not differ. We wished to test the hypothesis that these...
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