| Hb South Florida | beta1(NA1)Val->Met; amino terminus extended with a |
|---|---|
| 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. | ||