Antithrombin Dublin (−3 Val → Glu): an N‐terminal variant which has an aberrant signal peptidase cleavage site
1990
Abstract Antithrombin Dublin is an electrophoretically fast variant of antithrombin which has normal heparin affinity. Direct sequencing of amplified exon 2 revealed a Val→Glu substitution at position −3. N-terminal sequencing of antithrombin from two individuals, heterozygous for the Dublin mutation, showed the presence of a truncated antithrombin in which the N-terminal dipeptide is absent. We propose that the prepeptide mutation redirects signal peptidase cleavage to a site two amino acids downstream into the mature protein.
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
13
References
31
Citations
NaN
KQI