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. 2014 Jun 17;9(6):e100261. doi: 10.1371/journal.pone.0100261

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.