Table 2. Predictions of functional effects of TIE2 mutations.

Exon	Nt change	AA change	Predicted effect	dbSNP	dbEST	dbESE	POLYPHEN	PANTHER (subPSEC value)b
15	c.2545C>Ta	p.R849W	Missense	Absent	Absent	No change	Possibly damaging	High probability of deleterious effect (−4.93)
17	c.2690A>Ca	p.Y897S	Missense	Absent	Absent	No change	Probably damaging	High probability of deleterious effect (−3.77)
	c.2690A>G	p.Y897C	Missense	Absent	Absent	No change	Probably damaging	High probability of deleterious effect (−4.96)
	c.2744G>A	p.R915H	Missense	Absent	Absent	No change	Possibly damaging	High probability of deleterious effect (−4.25)
	c.2752C>T	p.R918C	Missense	Absent	Absent	No change	Probably damaging	High probability of deleterious effect (−5.33)
	c.2755G>T	p.V919 L	Missense	Absent	Absent	No change	Benign	Unlikely deleterious effect (−2.07)
	c.2773G>T	p.A925S	Missense	Absent	Absent	No change	Benign	Possible deleterious effect (−2.51)
22	c. 3300G>C	p.K1100N	Splicing or missense	Absent	Absent	(+) 1	Possibly damaging	Possible deleterious effect (−3.4)

^ac.2545C>T and c.2690A>C are the inherited mutations identified by Vikkula et al (1996) and Calvert et al (1999), respectively.

^bSubPSEC=substitution position-specific evolutionary conservation (< −3.5=high probability of deleterious functional effect; −2.5–3.5=possible deleterious functional effect; −2.5–2.5=unlikely functional effect; 2.5–3.5=possible gain-of-function effect; > 3.5=high probability of gain-of-function effect).