Table 3 of Williams, Mol Vis 2010; 16:705-712.


Table 3. List of coding variants identified from LOXL1 exon sequencing in South African black individuals with or without exfoliation glaucoma.



Location
Nucleotide
sequence
change*
Amino
acid
change


SNP ID


Allele
Allele
frequency
controls (N)
Allele
frequency
XFG (N)


p value
Promoter g.62,481A>C - rs16958477 A 0.862 (47) 0.947 (47) 0.08
Exon 1 c.98G>A - Novel G 0.990 (48) 1.000 (48) 1.00
Exon 1 c.727G>T R141L rs1048661 G 0.810 (50) 0.990 (50) 1.7×10−5‡
Exon 1 c.763G>A G153D rs3825942 G 0.620 (50) 0.130 (50) 5.2×10−13‡
Exon 1 c.780T>G S159A Novel T 0.920 (50) 0.980 (50) 0.10
Exon 1 c.787C>T S161L Novel C 0.970 (50) 1.000 (50) 0.25
Exon1 c.939G>A V212M Novel G 0.990 (50) 0.980 (50) 1.00
Exon 1 c.1,157C>T P284P Novel C 0.990 (48) 1.000 (48) 1.00
Exon 1 c.1,265G>T A320A rs41435250 G 1.000 (50) 0.990 (49) 0.49
Intron 3 g.82,933C>T - Novel C 0.917 (48) 0.963 (41) 0.23
Exon 4 c.1,772C>T F489F rs13329473 C 0.970 (50) 0.980 (50) 1.00
Intron 4 g.83,628G>A - rs74026313 G 0.730 (50) 0.470 (50) 0.00028
Intron 5 g.84,278G>A - Novel G 0.990 (48) 1.000 (48) 1.00
Exon 6 c.2,004A>G T567A Novel A 0.989 (47) 1.000 (48) 0.50
Exon 7 c.2,130G>C - rs8818 G 0.543 (47) 0.521 (48) 0.77
Exon 7 c.2,196C>T - rs3522 T 0.674 (43) 0.830 (47) 0.023