| NPR-B Mutant . | Retained in the ER . | cGMP Synthesis (% of WT) . | Dominant-Negative Effect on cGMP Synthesis . | Pathogenic Summary . |
|---|---|---|---|---|
| A164G | − | 81 | − | Nonpathogenic |
| D256Y | + | 1.15 | + | Pathogenic |
| T421M | + | 39 | + | Pathogenic |
| N546Y | − | 69 | − | Nonpathogenic |
| V548del | − | 0.20 | + | Pathogenic |
| R819Ca | − | ∼2 | + | Pathogenic |
| E991G | − | 0.03 | + | Pathogenic |
| R1020W | + | 0.05 | + | Pathogenic |
| NPR-B Mutant . | Retained in the ER . | cGMP Synthesis (% of WT) . | Dominant-Negative Effect on cGMP Synthesis . | Pathogenic Summary . |
|---|---|---|---|---|
| A164G | − | 81 | − | Nonpathogenic |
| D256Y | + | 1.15 | + | Pathogenic |
| T421M | + | 39 | + | Pathogenic |
| N546Y | − | 69 | − | Nonpathogenic |
| V548del | − | 0.20 | + | Pathogenic |
| R819Ca | − | ∼2 | + | Pathogenic |
| E991G | − | 0.03 | + | Pathogenic |
| R1020W | + | 0.05 | + | Pathogenic |
Cellular localization studies were undertaken using immunocytochemistry in U2OS cells, and cGMP synthesis capacity was assessed by ELISA.
Functional studies were previously reported (23).
| NPR-B Mutant . | Retained in the ER . | cGMP Synthesis (% of WT) . | Dominant-Negative Effect on cGMP Synthesis . | Pathogenic Summary . |
|---|---|---|---|---|
| A164G | − | 81 | − | Nonpathogenic |
| D256Y | + | 1.15 | + | Pathogenic |
| T421M | + | 39 | + | Pathogenic |
| N546Y | − | 69 | − | Nonpathogenic |
| V548del | − | 0.20 | + | Pathogenic |
| R819Ca | − | ∼2 | + | Pathogenic |
| E991G | − | 0.03 | + | Pathogenic |
| R1020W | + | 0.05 | + | Pathogenic |
| NPR-B Mutant . | Retained in the ER . | cGMP Synthesis (% of WT) . | Dominant-Negative Effect on cGMP Synthesis . | Pathogenic Summary . |
|---|---|---|---|---|
| A164G | − | 81 | − | Nonpathogenic |
| D256Y | + | 1.15 | + | Pathogenic |
| T421M | + | 39 | + | Pathogenic |
| N546Y | − | 69 | − | Nonpathogenic |
| V548del | − | 0.20 | + | Pathogenic |
| R819Ca | − | ∼2 | + | Pathogenic |
| E991G | − | 0.03 | + | Pathogenic |
| R1020W | + | 0.05 | + | Pathogenic |
Cellular localization studies were undertaken using immunocytochemistry in U2OS cells, and cGMP synthesis capacity was assessed by ELISA.
Functional studies were previously reported (23).
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