MUTATION | Codons 84/85/86 (+T); ACC·TTT·GCC(Thr·Phe·Ala)->ACC·TTT·T·GCC | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | The introduction of a T leads to premature termination of translation because codon 90 is a stop codon (TGA) | ||
IDENTIFICATION | Not reported | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not reported | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | Found in 23 members of six Japanese families | ||
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., Ideguchi, H., Cho, H.I., and Park, S.S.: Hemoglobin, 21:191, 1997. |