Hb A2-Wrens | delta98(FG5)Val->Met |
---|
CONTACT | Internal; heme to alpha2beta1 contacts | ||
ELECTROPHORESIS | No separation observed | ||
IEF | No separation observed | ||
CHROMATOGRAPHY | No separation observed | ||
STRUCTURE ANALYSIS | Not done | ||
DNA ANALYSIS | A GTG->ATG mutation at codon 98 | ||
NOTES | Found in a Black family; variant is unstable and occurred in association with HPFH |
REFERENCES | |||
1. | Codrington, J.F., Kutlar, F., Harris, H.F., Wilson, J.B., Stoming, T.A., and Huisman, T.H.J.: Biochim. Biophys. Acta, 1009:87, 1989. |