Hb Yaizu | beta79(EF3)Asp->Asn |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Variant was detected as a slow-moving Hb by IEF | ||
CHROMATOGRAPHY | Hb X and Hb A separate by anion exchange chromatography | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | A GAC->AAC mutation at codon 79 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Stable | ||
OCCURRENCE | Found in a Japanese female | ||
OTHER INFORMATION | Quantity in the heterozygote 41.4% |
REFERENCES | |||
1. | Harano, T., Harano, K., and Katsuki, T.: Hemoglobin, 19:21, 1995. |