Hb Takamatsu | beta120(GH3)Lys->Gln |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves faster than Hb A at alkaline pH | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation AAA->CAA at codon 120 | ||
FUNCTION STUDIES | Normal oxygen affinity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in three unrelated Japanese families | ||
OTHER INFORMATION | Quantity in the heterozygote 48% |
REFERENCES | |||
1. | Iuchi, I., Hidaka, K., Harano, T., Ueda, S., Shibata, S., Shimasaki, S., Mizushima, J., Kubo, N., Miyake, T., and Uchida, T.: Hemoglobin, 4:165, 1980. |