| Hb Yamagata | beta132(H10)Lys->Asn |
|---|
| CONTACT | External; near central cavity | ||
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | Hb X and Hb A were separated by IEF; Hb X moves faster than Hb A | ||
| CHROMATOGRAPHY | Not reported | ||
| STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
| DNA ANALYSES | Two mutations have been observed: AAA->AAC and AAA-> AAT at codon 132 | ||
| FUNCTION STUDIES | Slightly decreased oxygen affinity | ||
| STABILITY | Normal | ||
| OCCURRENCE | Found in members of a Japanese family | ||
| OTHER INFORMATION | Quantity in the heterozygote 40-45% |
| REFERENCES | |||
| 1. | Harano, T., Harano, K., Ueda, S., Imai, K., and Marubashi, S.: Hemoglobin, 14: 207, 1990. | ||
| 2. | Han, J.Y., Wee, J.H., Kim, J.M., Kim, J.Y., Kim, I.H., and Rodgers, G.P.: Hemoglobin, in press (1996). | ||