Molecular Vision: Banerjee, Mol Vis 2012; 18:1548-1557. Table 2

Table 2. Mutations identified in MYOC in eastern Indian POAG patients.

						Number of
Exon	Nucleotide change	Amino acid change	Status	SIFT score	Polyphen prediction (Score)	Patients (MAF)	Controls (MAF)
Exon 1	c.144G>T	Gln48His†	Reported	0.09	Possibly damaging (0.957)	7/765 (0.0046)	0/208
	c.375 Del G	R125fsX158	Novel	-	-	1/765 (0.00065)	0/208
	c.767C>T	Thr256Met†	Reported	0.15	Benign (0.229)	2/765 (0.0013)	0/208
	c.819 Del C	D273fsX344	Novel	-	-	1/765 (0.00065)	0/208
	c.992C>T	Ser331Leu	Novel	0.18	Benign (0.066)	1/765 (0.00065)	0/208
Exon 3	c.1102C>T	Gln368Stop†	Reported	-	-	3/765 (0.0019)	0/208
	c.1109C>T	Pro370Leu‡	Reported	0.03	Probably damaging (1.000)	1/765 (0.00065)	0/208
	c.1196G>A	Gly399Asp‡	Reported	0.00	Probably damaging (1.000)	1/765 (0.0013)	0/208
	c.1279G>A	Ala427Thr‡	Reported	0.02	Probably damaging (1.000)	2/765 (0.0013)	0/208

From a cohort of 765 POAG patients, 450 DNA samples were screened for the coding region of MYOC in the present study; the remaining 315 have been analyzed before [25]. Unrelated control subjects (n=208) were enrolled from the same ethnic background. MAF: Minor Allele Frequency. Genotypes for all mutations are heterozygous except for Gly399Asp. SIFT score predicts phenotypic effect; <0.05 predicted to be deleterious, ≥0.05 tolerated. SIFT score cannot be calculated for the nonsense/in-del variants. The effect of the substitution on the protein structure was assessed by PolyPhen-2. † Present study and previously published [25], ‡ Previously published [25].