Hb Yahata | beta112(G14)Cys->Tyr |
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CONTACT | Internal; central cavity | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A can be separated by IEF; Hb X moves ahead of Hb A | ||
CHROMATOGRAPHY | Hb X moves slightly faster than Hb A by cation exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSES | A TGT->TAT mutation at codon 112 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 27-year-old Japanese male | ||
OTHER INFORMATION | Quantity in the heterozygote 45% |
REFERENCES | |||
1. | Harano, T., Harano, K., Kushida, Y., and Ueda, S.: Hemoglobin, 15:109, 1991. |