Table 3. Results from four different bioinformatic programs used to predict the effect on the splicing process in BMPR2 gene (NNSplice, NetGene2, Splice View and HSF Human).
Sequence variants | NNSplice | NetGene2 | Splice View | HSF Human | Score |
c.1-301G>A | The WT consensussequenceis not recognized | Score for the aceptor siteincreases from 25 to 26 | The WT consensus sequenceis not recognized | Neutral | 1 |
c.190A>C (p.(S64G)) | Neutral | The WT consensus sequenceis not recognized | A new donor siteis created | Score for donor andacceptor site decreases | 2 |
c.229A>T (p.(I77L)) | The WT consensussequenceis not recognized | Score for the main donor siteincreases from 31 to 34 | Neutral | A new acceptor siteis created | 2 |
c.251G>T (p.(C84F)) | Score for the aceptor siteincreases from 87 to 89 | Score for the main acceptor sitedecreases from 33 to 27 | Neutral | The main donor siteis not recognized | 3 |
c.259C>T (p.(H87Y)) | Score for the aceptor sitedecreases from 87 to 86 | Score for the main acceptor sitedecreases from 33 to 30 | Neutral | The main donor site is notrecognized and theacceptor increase | 3 |
c.275A>T (p.(Q92L)) | Neutral | Score for the main acceptor sitedecreases from 33 to 25 | Neutral | Score for donor and acceptorsite increases | 2 |
c.327G>C (p.(Q109Q)) | Neutral | Score for the main donor sitedecreases from 79 to 76 | Neutral | The main donor site isnot recognized | 2 |
c.419-43delT | Neutral | Neutral | Neutral | Neutral | 0 |
c.484G>C (p.(A162P)) | Score for the aceptor sitedecreases from 80 to 66 | Neutral | Neutral | The main donor site is notrecognized | 2 |
c.529+37C>G | A new acceptor siteis created | Neutral | Neutral | A new acceptor site is created | 2 |
c.529+53A>G | Neutral | Neutral | Neutral | A new acceptor site is created | 1 |
c.529+139A>T | Neutral | Neutral | Neutral | Score for donor site decreasesand the acceptor site increase | 1 |
c.530-24G>T | Neutral | Score for the main donor siteincreases from 83 to 86 and themain acceptor site increasesfrom 77 to 82 | Neutral | The donor and acceptor sitesis not recognized | 2 |
c.622+103C>G | Neutral | Neutral | Neutral | The main donor site is not recognized | 1 |
c.633A>G (p.(R211R)) | Neutral | Score for the main donor siteincreases from 92 to 94 | Neutral | The main donor site is notrecognized and the acceptor decrease | 2 |
c.637C>A (p.(R213R)) | Neutral | Score for the main acceptor sitedecreases from 20 to 18 | Neutral | Score for donor site increasesand a new acceptor site is created | 2 |
c.654T>A (p.(Y218*)) | Neutral | Score for the main donor siteincreases from 92 to 94 andthe main acceptor sitedecreases from 20 to 18 | Neutral | Score for the main acceptorsite decrease | 2 |
c.790G>A (p.(D264N)) | Neutral | Score for the main donor sitedecreases from 94 to 92 | Neutral | The main donor site is not recognized | 2 |
c.835G>T (p.(V278V)) | Neutral | Neutral | Neutral | Score for donor site decreasesand the acceptor site increase | 1 |
c.853-22T>C | Neutral | Score for the main donor sitedecreases from 87 to 86 | Neutral | Neutral | 1 |
c.968+117G>A BMPR2 | Neutral | Neutral | Neutral | The donor and acceptor sitesis not recognized | 1 |
c.968-124_968-122delTCT | Neutral | Neutral | Neutral | Neutral | 0 |
c.893G>A (p.(W298*)) | Neutral | Score for the main donor andacceptor site decreases | The WT consensus sequenceis not recognized | The main donor site increase anda new acceptor site in created | 2 |
c.981T>C (p.(P327P)) | The WT consensussequenceis not recognized | Score for the main donor sitedecreases from 100 to 99 | Neutral | A new donor site is created | 2 |
c.1021G>A (p.(V341M)) | Neutral | Neutral | The WT consensus sequence isnot recognized | The main donor site is not recognized | 2 |
c.1414-84C>T | Neutral | Neutral | Neutral | Score for the main acceptor site increases | 1 |
c.1467G>A (p.(E489E)) | Neutral | Score for the main donor siteincreases from 89 to 93 | Neutral | A new acceptor site is created | 2 |
c.2034G>A (p.(K678K)) | Neutral | Neutral | Neutral | The main donor site is not recognized | 1 |
c.2324G>A (p.(S775N)) | Neutral | Neutral | Neutral | The main donor site is not recognized | 1 |
c.2811G>A (p.(R937R)) | Neutral | Neutral | Neutral | The main donor site is not recognized | 1 |
These results are considered positive if the score is equal or greater than two.