| Hb Ube-2 | alpha68(E17)Asn->Asp |
|---|
| CONTACT | External | ||
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; it moves ahead of Hb A on agar gel | ||
| CHROMATOGRAPHY | Not reported | ||
| STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
| DNA ANALYSES | Not reported; presumed mutation AAC->GAC; alpha2 or alpha1 | ||
| FUNCTIONAL STUDIES | Normal oxygen affinity | ||
| STABILITY | Normal | ||
| OCCURRENCE | Found in a few Japanese families | ||
| OTHER INFORMATION | Quantity in heterozygotes 22-23% |
| REFERENCES | |||
| 1. | Miyaji, T., Iuchi, I., Yamamoto, K., Ohba, Y., and Shibata, S.: Clin. Chim. Acta, 16:1967. | ||
| 2. | Imai, K., Morimoto, H., Kotani, M., Shibata, S., Miyaji, T., and Masutomo, K.: Biochim. Biophys. Acta, 200:197, 1970. | ||
| 3. | Iuchi, I., Hidaka, K., Shimasaki, S., and Mizuta, W.: Kawasaki Med. J., 10(1):21, 1984. | ||