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Table 3 Missense changes found in the coding region of the ENG gene and their classification according to computer algorithms (PolyPhen-2, Pmut, SIFT and MutationTaster2)

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

Classification of missense variations found in the coding region
Exon Nucleotide change Amino acid change Times detected PolyPhen-2 Pmut Sift Mutation Taster Score
Exon 5 c.572G>A p.(G191D) 10 Probably Damaging Pathological Damaging Disease causing 4
Exon 6 c.775G>A p.(V259M) 3 Probably Damaging Neutral Damaging Polymorphism 2
Exon 10 c.1295A>T p.(S432C) 2 Probably Damaging Pathological Tolerated Polymorphism 2
Exon 11 c.1402G>C p.(E468Q) 12 Probably Damaging Neutral Tolerated Polymorphism 1
Exon 11 c.1421T>A p.(F474Y) 6 Probably Damaging Neutral Tolerated Polymorphism 1
Exon 12 c.1633G>A p.(G545S) 1 Probably Damaging Pathological Tolerated Disease causing 3
Exon 12 c.1660C>A p.(R554C) 1 Probably Damaging Pathological Tolerated Polymorphism 2
  1. These results are considered damaging if the score is equal or greater than two