Article
Albumin Rugby Park: a truncated albumin variant caused by a G-->C splice-site mutation in intron 13.
Biochimica et biophysica acta - 13 Oct 1992
Peach R J, Fellowes A P, Brennan S O, George P M
Abstract excerpt
Three members of a family were found to be heterozygous for a fast albumin variant (Albumin Rugby Park) that made up only 8% of total serum albumin. Isoelectric focussing indicated an increased negative charge on the C-terminal CNBr peptide and C-terminal sequence analysis of the native protein showed an aberrant sequence of -Ser-Phe. Sequence analysis of PCR-amplified DNA indicated a G-->C mutation at position 1...
Topics
- Albumins
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human, Pair 4
- Cytidine
- DNA
- Electrophoresis, Agar Gel
- Electrophoresis, Polyacrylamide Gel
- Guanine
- Heterozygote
- Humans