Molecular Vision: Paliwal, Mol Vis 2009; 15:2475-2479. Table 1

Table 1. Summary of the sequence variants identified in various studies to date.

Variant number	Variant seen	Pathogenic/non pathogenic	Total number of patients studied	Mutation seen in individuals/families	Source
1	L17P	Pathogenic	80	5 /3	[18]
2	D144E	Pathogenic	80	6/2	[18]
		Pathogenic		Ashkenazi Jewish family	[22]
		No familial segregation	85 F	4 (2 [A]; 2 [UA]) /1	[20]
		Non pathogenic	100	1/1	[19]
		Pathogenic/Non pathogenic???	63Kc+90G	2/1	[12]
3	L159 M	Pathogenic(not conserved)	63Kc+90G	4/1	[12]
		Non pathogenic	521	6 (3 [A] ; 2 [UA]; 1 [C]/-	[21]
4	N151S	Pathogenic	249	1/1	[23]
5	G160D	Non pathogenic	80	4/2	[18]
		Identified in PPD not in Keratoconus & not conserved	63	5/1	[12]
6	G160V	Pathogenic	249	13/-	[23]
7	R166W	Pathogenic	63Kc+90G	1/1	[12]
		Non pathogenic	521	NVI	[21]
8	H244R	Pathogenic/non pathogenic??(seen in controls)	63Kc+90G	3/1	[12]
		Non pathogenic	521	3 (2[A], 1[UA])/-	[21]
9	P247R	Pathogenic	80	4 /1	[18]
		Non pathogenic	63Kc+90G	2/1	[12]
		Identified in controls/ non pathogenic	85 F	1/1 [C]	[20]

Table 1 shows the sequence variants identified by various authors and the conclusions reached regarding their pathogenecity. ‘F’ represents families, ‘Kc’ represents patients with keratoconus, ‘G’ represents patients with glaucoma,’ A’ represents variants identified in patients affected with keratoconus, ‘UA’ represents variants identified in unaffected relatives of keratoconus patients, ‘C’ represents variants identified in controls and ‘NVI’ represents no variants identified.