Molecular Vision: Zhang, Mol Vis 2012; 18:55-63. Table 3

Table 3. Phenotypes caused by genetic changes at F-helix in the kinase domain of TGFBR2.

Reference	Nucleotide	Protein	Diagnosis	CS	OS	SS	S	LDS specific symptoms	Age (years)	Sex	Ghent nosology
[12]	c.1318G>A	p.E440K	LDS	M	Strabismus	m	-	Involve	9	Male	Not fulfilled
[22]	c.1322C>T	p.S441F	MFS2	M	Myopia	M	m	Not involve	14	Male	Fulfilled
[19]	c.1324T>C	p.F442L	LDS	M	-	m	m	Involve	36	Female	Not fulfilled
[21]	c.1336G>A	p.D446H	LDS	M	Blue sclerae	m	-	Involve	1	Male	Not fulfilled
[23]	c.1336G>C	p.D446H	LDS	M	-	-	-	Involve	7	Female	Not fulfilled
[13]	c.1336G>A	p.D446H	LDS	M	Blue sclerae; Strabismus	m	-	Involve	-	Male	Not fulfilled
[18]	c.1336G>C	p.D446N	MFS2	M	-	m	-	Not involve	4	Female	Not fulfilled
[23]	c.1336G>A	p.D446N	LDS	M	-	m	m	Involve	26	Female	Not fulfilled
[25]	c.1342T>A	p.Y448N	LDS	?	?	?	?	Involve	?	?	Not fulfilled
[5]	c.1346C>T	p.S449F	MFS2	M	-	M	-	Not involve	12	Female	Not fulflled
[25]	c.1346C>T	p.S449F	LDS	M	-	m	m	Involve	neonatal	?	Not fulfilled
[23]	c.1346C>T	p.S449F	MFS2	M	-	M	-	Involve	13	Female	Not fulfilled
This study	c.1358T>A	p.V453E	MFS2	M	-	M	m	Not involve	12	Female	Fulfilled
[24]	c.1370T>A	p.M457K	MFS2	M	-	m	m	Not involve	9	Female	Not fulfilled
[20]	c.1370T>A	p.M457K	LDS	M	-	M	-	Involve	neonatal	Male	Not fulfilled
[23]	c.1351_1356del	p.A451_L452del	LDS	M	-	-	-	Involve	1	Male	Not fulfilled

M: major criterion fulfilled, m: minor criterion fulfilled, -: organ system not involved, ?: not mentioned. CS: Cardiac system, OS: Ocular system, SS: Skeletal system, S: Skin and integument. LDS: Loeys Dietz Syndrome, MFS: Marfan Syndrome. Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequences (TGFBR2: NM_003242.5). The initiation codon is codon 1.