Hb South Florida | beta1(NA1)Val->Met; amino terminus extended with a |
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methionyl residue: (-1)Met-(+1)Met-(+2)His-Leu- |
HEMATOLOGY | Probably normal | ||
ELECTROPHORESIS | Hb X focuses ahead of Hb A in IEF | ||
CHROMATOGRAPHY | Hb X elutes with Hb A1c in cation exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GTG->ATG at codon beta1; this prevents the removal of the initiator methionine | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in members of a Caucasian family | ||
OTHER INFORMATION | Quantity in the heterozygote 12-20%; about 20% of the variant is acetylated |
REFERENCES | |||
1. | Boissel, J-P., Kasper, T.J., Shah, S.C., Malone, J.I., and Bunn, H.F.: Proc. Natl. Acad. Sci. USA, 82:8448, 1985. |