Table 5.
REN mutations; a summary of in vitro characteristics
| Cell lyzate | Culturing medium | Cellular localization | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Localization of the mutation | Preprorenin (WB) | Prorenin (WB) IRMA % of wild type renin | Renin (WB) IRMA % of wild type) | Prorenin / Renin ratio | Prorenin (WB) | Renin (WB) | Prorenin IRMA assay % of wild type renin | Renin IRMA assay % of wild type renin | Prorenin / Renin ratio | Prorenin activity % of wild type renin | Renin activity % of wild type renin | Prorenin / Renin ratio | Immunofluorescence using anti-human preprorenin 288-317 antibody detecting preprorenin + prorenin + renin |
| wild type protein | + | + 112±19 |
+ 100±13 |
1.1 | + | − | 705±71 | 100±4 | 7.5 | 100±6 | 100±4 | 1 | Coarsely granular structures in cytoplasm and lysosomes |
| signal peptide del16L | + | + 4±3 |
+ 77±1 |
0.1 | + | − | 457±41 | 61±1 | 7.5 | 27±1 | 21±3 | 1.3 | Less distinct granular structures in cytoplasm and lysosomes |
| signal peptide missense | + |
− 2-3 |
− 2-6 |
0 | − | − | 51-85 | 7-15 | 0 | 3-10 | 0-7 | 0 | Diffuse cytoplasmic staining |
| prosegment T26I | + | + 72 |
+ 112 |
0.6 | + | − | 167±19 | 130±11 | 1.3 | 87 | 72 | 1.2 | |
| prosegment M39K | + | + 67 |
+ 81 |
0.8 | + | − | 7±33 | 238±24 | 0.03 | 64 | 255 | 0.25 | Less distinct granular structures in cytoplasm and lysosomes with diffuse staining localized partly to ERGIC |
| prosegment VUS_S45N | + | + 119±23 |
+ 64 ±16 |
1.9 | + | − | 768±170 | 66±12 | 11.6 | 97±4 | 88±5 | 1.1 | |
| mature renin C325R | − | + 5 |
+ 7 |
0 | − | − | 0 | 0 | 0 | 0.1±0.1 | 0 | 0 | Intracellular clumps localized to ER |
| AA variants | |||||||||||||
| signal peptide P8A | + | + 132±26 |
+ 89±16 |
1.5 | + | − | 658±29 | 73±14 | 9 | 102±2 | 109±5 | 0.9 | Similar to wild type |
| prosegment R33W | + | + 22±6 |
+ 30±3 |
0.7 | + | − | 67±7 | 74±22 | 0.9 | 37±1 | 103±5 | 0.4 | More diffuse pattern localized to ERGIC |
Gray-shaded values are those significantly different from the wild type.