MUTATION | Codons 89/90 (-GT); AGT·GAG(Ser·Glu)->A--·GAG | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | The deletion of GT from codons 89 and 90 results in a premature termination of translation because the new codon 93 is a stop codon (TGA) | ||
IDENTIFICATION | Not reported | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not reported | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | Found in a Korean beta-thal heterozygote | ||
HAPLOTYPE | Not reported | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | Not reported | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | Not reported | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Ohba, Y., Hattori, Y., Harano, T., Harano, K., Fukumaki, Y., and Ideguchi, H., Cho, H.I., and Park, S.S.: Hemoglobin, 21:191 1997. |