Article
A novel I247T missense mutation in the haptoglobin 2 beta-chain decreases the expression of the protein and is associated with ahaptoglobinemia.
Human genetics - 1 Apr 2004
Teye Kwesi, Quaye Isaac K E, Koda Yoshiro, Soejima Mikiko, Pang Hao, Tsuneoka Makoto, Amoah Albert G B, Adjei Andrew, Kimura Hiroshi
Abstract excerpt
We have identified a novel base substitution at codon 247 in the beta-chain of the haptoglobin 2 ( Hp(2)) allele in a Ghanaian with the Hp0 (ahaptoglobinemic) phenotype. The heterozygous T-->C substitution caused reduced expression of the protein when the mutant was transfected into COS7 cells. The base substitution resulted in a missense change of the non-polar amino acid isoleucine to the polar amino acid...
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