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 |