Hb Old Dominion | beta143(H21)His->Tyr |
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CONTACT | External; central cavity; 2,3-DPG binding site | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Not reported | ||
CHROMATOGRAPHY | Hb X moves faster than Hb A in cation exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation CAC->TAC at codon 143 | ||
FUNCTION STUDIES | Increased oxygen affinity | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a young diabetic male | ||
OTHER INFORMATION | Quantity in the heterozygote ~50% |
REFERENCES | |||
1. | Fairbanks, V., McCormick, D., Horn, A., Jones, R., Shih, D., Hoyer, J., Madden, B.J., and Kubik, K.: Blood, 86:647a (Suppl. 1), 1995. |