Molecular Vision: Jelodari-Mamaghani, Mol Vis 2013; 19:333-347. Table 1

Table 1. Novel sequence variations in LTBP2.

Mutation	Het/ Homo		Protein location		Change in charge of aa		Change in size of R group of aa	PolyPhen prediction/ HumDiv score	Conservation	No. controls checked/ presence	Comments
POAG
p.Pro432Leu	Het		Close to right border (p.428)		⁻		Small>large	Probably	^{+ + + +}	400/-	Also observed
			of 2nd EFG-like motif				(Ring>linear)	damaging/1	^{+ + + +}	400/-	in PEXG patient
p.Arg495Gln	Het		Not within known motif		⁺		Large>medium	Probably	^{+ + +}	400/-	Familial data supports
								damaging/0.999	^{+ + +}	400/-	role in disease
p.Glu1191Lys	Het		Adjacent to p.Cys1192		⁺		Medium>large	Probably	^{+ + +}	400/-
			of 12th EFG-like motif					damaging/0.987	^{+ + +}	400/-
p.Gln1417Arg	Homo		Within TB2 motif		⁺		Medium>large	Benign/0.249^§	^{+ +}	400/-
										400/-
p.Val1638Met	Het		Very close to right border		⁻		Medium>large	Probably	^{+ +}	400/-
			(p.1636) of TB3 motif					damaging/0.998	^{+ +}	400/-
PEX syndrome
p.Pro432Leu		Het	Close to right border (p.428)		⁻		Small>large	Probably	^{+ + + +}	400/-	Also observed
			of 2nd EFG-like motif				(Ring>linear)	damaging/1	^{+ + + +}	400/-	in POAG patient
p.Tyr1792fsX55*		Het	Stop codon within							400/-	Causative of PCG
			cbEFG-like 20 motif								in Hom state
Other novel variations probably not disease associated												Reason assessed
												not disease associated¤
p.Ser518Ile		Het		Not within known motif		⁻	Very small>large	Possibly	⁺	100/2	Observed in POAG	Also observed
								damaging/0.837	⁺	100/2	(2X),PEX,	in controls
											simple EL patients
p.Pro1452Pro		Het		Within TB3 motif		⁻	⁻			ND	Observed	Creates synonymous
										ND	in POAG patient	codon
p.Pro1556Pro		Het		Within cbEFG-like 18 motif		⁻	⁻			ND	Observed	Creates synonymous
										ND	in POAG patient	codon
p.Ile667Leu		Het		Not within known motif		⁻	⁻	Benign/0.028	⁺	200/-	Observed in	Similar amino acid
				Not within known motif		⁻	⁻	Benign/0.028	⁺	200/-	PEX patient	in other species
Intronic		Het								ND	Observed in	No effect on splicing
Intronic		Het								ND	PEX patient
p.Met1567Val		Het		Within cbEFG-like motif 18		⁻	Large>medium	Benign/0.000	⁺	200/-	Observed in	Val observed in
											PEXG patient	non-primate species

* Not novel, previously observed in PCG affected sons; § Considered potential risk factor despite HumDiv score because of other features shown in table; ¤ As stated in text, we opted for stringent criteria in predicting possible association with disease status; ⁺: Conserved in primates; ⁺⁺: Conserved in mammals; ⁺⁺⁺: Conserved in mammals & birds; ⁺⁺⁺⁺: Conserved in mammals, birds & fish; ND: not screened in controls; Het: heterozygous,Homo: homozygous.