Table 2.
In silico analysis of variants identify in the BMPR2 gene.
| Nucleotide change | PolyPhen-274 | Pmut75 | Sift76 | Mutation Taster77 | NNSplice78 | NetGene278 | Splice View78 | HSF79 |
|---|---|---|---|---|---|---|---|---|
| c.1-347C > T | — | — | — | — | The WT consensus sequence is not recognized | Score for the main donor site increases | The WT consensus sequence is not recognized | Neutral |
| c.1-301G > A | — | — | — | — | The WT consensus sequence is not recognized | Score for the aceptor site increases | The WT consensus sequence is not recognized | Neutral |
| c.1-279C > A | — | — | — | — | The WT consensus sequence is not recognized | Score for the main donor site increases | The WT consensus sequence is not recognized | Neutral |
| c.1-186A > T | — | — | — | — | The WT consensus sequence is not recognized | Score for the main donor site increases | The WT consensus sequence is not recognized | Neutral |
| c.1-92C > A | — | — | — | — | The WT consensus sequence is not recognized | Score for the main donor site increases | The WT consensus sequence is not recognized | Neutral |
| c.156_157delTC (p.S52Sfs*1) | — | — | — | — | Neutral | Score for the main donor site and the main acceptor site decreases | The WT consensus sequence is not recognized | A new acceptor site is created |
| c.190A > C (p.S64R) | Benign | Neutral | Tolerated | Disease causing | Neutral | The WT consensus sequence is not recognized | A new donor site is created | Score for donor and acceptor site decreases |
| c.229A > T (p.I77L) | Benign | Neutral | Damaging | Disease causing | The WT consensus sequence is not recognized | Score for the main donor site increases | Neutral | A new acceptor site is created |
| c.251G > T (p.C84F) | Probably damaging | Neutral | Damaging | Disease causing | Score for the acceptor site increases | Score for the main acceptor site decreases | Neutral | The main donor site is not recognized |
| c.259C > T (p.H87Y) | Benign | Neutral | Damaging | Disease causing | Score for the acceptor site decreases | Score for the main acceptor site decreases | Neutral | The main donor site is not recognized and the acceptor |
| c.275A > T (p.Q92L) | Benign | Pathologic | Damaging | Disease causing | Neutral | Score for the main acceptor site decreases | Neutral | Score for donor and acceptor site increases |
| c.327G > A (p.Q109Q) | — | — | — | — | Neutral | Score for the main donor site decreases | Neutral | The main donor site is not recognized |
| c.327G > C (p.Q109H) | Probably damaging | Neutral | Tolerated | Disease causing | Neutral | Score for the main donor site decreases | Neutral | The WT consensus sequence is not recognized |
| c.412C > G (p.P138A) | Disease causing | Neutral | Neutral | Neutral | Neutral | |||
| c.484G > C (p.A162P) | Probably damaging | Neutral | Damaging | Disease causing | Score for the acceptor site decreases | Neutral | Neutral | The main donor site is not recognized |
| c.600A > C (p.L200L) | — | — | — | — | Neutral | Neutral | Neutral | Neutral |
| c.633A > G (p.R211R) | — | — | — | — | Neutral | Score for the main donor site increases | Neutral | The main donor site is not recognized and the acceptor decrease |
| c.637C > A (p.R213R) | — | — | — | — | Neutral | Score for the main acceptor site decreases | Neutral | Score for donor site increases and a new acceptor site is created |
| c.654T > A (p.Y218*) | — | — | — | — | Neutral | Score for the main donor site increases and the main acceptor site decreases | Neutral | Score for the main acceptor site decrease |
| c.742A > G (p.R248G) | Benign | Pathologic | Damaging | Disease causing | Neutral | Score for the main donor site decreases | Neutral | Score for the main donor site and the main acceptor site increases |
| c.790G > A (p.D264N) | Possibly damaging | Neutral | Damaging | Disease causing | Neutral | Score for the main donor site decreases | Neutral | The main donor site is not recognized |
| c.835G > T (p.V278V) | — | — | — | — | Neutral | Neutral | Neutral | Score for donor site decreases and the acceptor site increase |
| c.893G > A (p.W298*) | — | — | — | — | Neutral | Score for the main donor and acceptor site decreases | The WT consensus sequence is not recognized | The main donor site increase and a new acceptor site in created |
| c.981T > > > C (p.P327P) | — | — | — | — | The WT consensus sequence is not recognized | Score for the main donor site decreases | Neutral | A new donor site is created |
| c.1021G > A (p.V341M) | Possibly damaging | Neutral | Damaging | Disease causing | Neutral | Neutral | The WT consensus sequence is not recognized | The main donor site is not recognized |
| c.1400A > G (p.K467R) | Possibly damaging | Neutral | Damaging | Disease causing | Neutral | Score for the main donor site increases | Neutral | The main donor site is not recognized |
| c.1467G > A (p.E489E) | — | — | — | — | Neutral | Score for the main donor site increases | Neutral | A new acceptor site is created |
| c.2324G > A (p.S775N) | Benign | Neutral | Tolerated | Polymorphism | Neutral | Neutral | Neutral | The main donor site is not recognized |