Molecular Vision: Banerjee, Mol Vis 2012; 18:1548-1557. Table 3

Table 3. Polymorphic and rare variants in MYOC in eastern Indian POAG cohort.

				Number of
Location	Nucleotide change	Amino acid change	Status	Patients (MAF)	Controls (MAF)
Promoter	−83G>A*	-	Reported	150/ 250 (0.33)	67/100 (0.38)
	−159T>C*	-	Novel	12/250 (0.024)	4/100 (0.02)
	−190T>C	-	Reported	1/250 (0.002)	0/100
	−241G>A*	-	Novel	18/250 (0.036)	6/100 (0.03)
	−320C>T*	-	Novel	24/250 (0.048)	10/100 (0.05)
Exon 1	c.98G>A	Arg33Lys	Novel	1/765 (0.00065)	0/208
	c.227G>A*	Arg76Lys†	Reported	459/765 (0.33)	139/208 (0.38)
	c.309 C>T	Thr103Thr	Novel	1/765 (0.00065)	0/208
	c.372 G>C	Leu124Leu	Novel	1/765 (0.00065)	0/208
	c.419 C>G	Thr140Ser	Novel	0/208	1/765 (0.00065)
Exon 3	c.816 A>T	Arg272Arg	Novel	1/765 (0.00065)	0/208
	c.855 G>T	Thr285Thr‡	Reported	1/765 (0.00065)	0/208
	c.952C>T	Leu318Leu‡	Reported	1/765 (0.00065)	0/208
	c.1041T>C	Tyr347Tyr†	Reported	18/765 (0.012)	1/208 (0.002)
	c.1053C>T	Thr351Thr	Reported	1/765 (0.00065)	0/208
	c.1058C>T	Thr353Ile‡	Reported	1/765 (0.00065)	0/208
	c.1182C>T	Thr394Thr‡	Reported	1/765 (0.00065)	0/208
	c.1185T>G	Asp395Glu	Novel	1/765 (0.00065)	0/208
	c.1239C>T	Leu413Leu	Novel	1/765 (0.00065)	0/208
	c.1278C>T	Val426Val	Novel	1/765 (0.00065)	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. One kb upstream region of the gene was also examined for variants in 250 patients and 100 control samples. MAF: Minor Allele Frequency. † Present study and previously published [25], ‡ Previously published [25].