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Table 4 Results from the four different bioinformatic programs used to predict the effect of missense, synonymous and intronic changes on the splicing process in the ENG gene (NNSplice, NetGene2, Splice View and HSF Human)

From: Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension

Sequence variants Reference Genotype frequency NNSplice NetGene2 Splice View HSF Human Score
c.207G>A (p.(L69L)) rs11545664 G: 89 % A: 11 % Neutral Neutral Neutral A new acceptor site is created 1
c.219+25G>T This study ---------- Neutral Neutral Neutral Neutral 0
c.360+56T>A This study ---------- Neutral Score for the main donor site decreases from 93 to 89 Neutral A new acceptor site is created 2
c.498G>A (p.(Q166Q)) Pousada et al [8] G: 100 % A: 0 % Neutral Score for the main donor site decreases from 90 to 87 A new donor site is created Score for the main acceptor site decrease from 82 to 53 3
c.572G>A (p.(G191D)) Rs41322046 (Lesca et al [27]) G: 100 % A: 0 % Neutral Score for the main acceptor site increase from 18 to 19 Neutral Neutral 1
c.775G>A (p.(V259M)) This study ---------- Neutral Score for the main acceptor site increase from 35 to 37 Neutral A new acceptor site is created 2
c.817+17T>A This study ---------- Neutral Score for the main donor site decreases from 100 to 99 Neutral Score for the main acceptor site decrease from 82 to 78 2
c.817+23G>A This study ---------- Neutral Neutral Neutral Neutral 0
c.991+21_991+26dupCCTCCC rs148063362 WT: 74 % DUP: 26 % Neutral Neutral Neutral Neutral 0
c.1272+6A>T This study ---------- Neutral Neutral A new donor site is created Score for the main acceptor site decrease from 65 to 37 2
c.1295A>T (p.(S432C)) This study ---------- Neutral Score for the main donor site decreases from 74 to 54 Neutral Score for the main acceptor site decrease from 76 to 72 2
c.1402G>C (p.(E468Q)) rs370554511 G: 100 % C: 0 % Neutral Neutral The WT consensus sequence is not recognized Score for the main acceptor site increase from 70 to 80 1
c.1421 T>A (p.(F474Y)) This study ---------- Neutral Neutral Neutral Score for the main acceptor site decrease from 87 to 85 1
c.1633G>A (p.(G545S)) rs1428896669 (Pfarr et al [7]) G: 100 % A: 0 % Neutral Neutral Neutral A new acceptor site is created 1
c.1660C>A (p.(R554C)) COSM1105417 C: 100 % A: 0 % Neutral Score for the main donor site decreases from 69 to 67 Neutral A new acceptor site is created 2
  1. These results are considered positive if the score is equal or greater than two. The Genotype frequency values were for 1000 Genome Project. For novel mutations, described in this study, no genotype data were available