Molecular Vision: Kondo, Mol Vis 2013; 19:476-485. Table 3

Table 3. Rare LRP5 variants identified in advanced retinopathy of prematurity patients

Location	cDNA change	Protein change (score with Blosum62)	Occurrence in patients	Allele frequency in ethnically matched samples	Known polymorphism (rs ID, allele frequency)	Computational analysis score				Patient characteristics: ethnicity; gender; birthweight; gestational age; clinical data	Reference
Location	cDNA change	Protein change (score with Blosum62)	Occurrence in patients	Allele frequency in ethnically matched samples	Known polymorphism (rs ID, allele frequency)	SIFT	Poly- phen2	Mutation Taster	Phylop		Reference
Exon 17	c.3656G>A	p.R1219H (0)	1/53	NA	Yes (rs143924910, 0.022%)	0.59 (T)	0.996 (PrD)	0.9988 (Dc)	0.9904 (C)	#N5701: Japanese; male; 864 g; 26 gw; Classic ROP, Stage 4A (OU), Lx at 8 w, Vx at 13 w	This study
Exon 20	c.4148A>C	p.H1383P (−2)	1/53	1/386	No	0.26 (T)	0.001 (B)	0.9983 (Dc)	0.9975 (C)	#N1701: Japanese; female; 719 g; 25 gw; Classic ROP, Stage5 (OD), Stage 4B (OS), Lx (OU), Vx at 6 m (OD) and 4 y (OS)	This study
Exon 23	c.4619C>T	p.T1540M (−1)	1/53	4/386	Yes (rs141407040, 0.022%)	0 (D)	1.00 (Prd)	0.9908 (Dc)	0.9617 (C)	#N1001: Japanese; male; 850 g; 25 gw; Classic ROP, Stage 4B (OS) / 5(OD), Lx (OU), Vx at 6 m (OU)	This study

Allele frequency from ethnically-matched samples was obtained from random individuals. Known polymorphism was based on the dbSNP, and the allele frequency was on the Exome Variant Server, NHLBI Exome Sequencing Project (ESP), Seattle, WA. Computational analyses were performed by 4 programs (SIFT, Polyphen2, Mutation taster, and PhyloP). Pathogenic results are shown by bold characters as “D (damaging)” for SIFT, “PrD (probably damaging)” or “PsD (possibly damaging)” for Polyphen2, “Dc (disease-causing)” for Mutation Taster, and “C (conserved)” for PhyloP. Non-pathogenic results are shown by italic characters as “T (tolerated)” for SIFT, and “B (benign)” for Polyphen2. g: gram, gw: gestational weeks, Lx: laser, m: months after birth, NA: not analyzed, Vx: vitrectomy, y: years after birth.