Table 3 of Liu, Mol Vis 2012; 18:2241-2246.


Table 3. List of non-synonymous variants identified from MYOC exon sequencing in 529 African American POAG subjects and 270 controls.


Exon
location
Amino
acid
change

Nucleotide
change*

dbSNP
ID
Number
of
cases
Number
of
controls


p-value†
Exon 1 Arg76Lys 227C>T rs2234926 31 (5.9%) 14 (5.2%) 0.75
Exon 1 Ala108Gly 323G>C   0 (0.0%) 1 (0.4%) 0.34
Exon 1 Arg126Gln 377C>T   0 (0.0%) 1 (0.4%) 0.34
Exon 2 Arg226Gln 677C>T   0 (0.0%) 1 (0.4%) 0.34
Exon 2 Gly244Ser 730C>T   0 (0.0%) 1 (0.4%) 0.34
Exon 3 Val329Met 985C>T   2 (0.4%) 0 (0.0%) 0.55
Exon 3 Ser333Cys 997T>A   1 (0.2%) 1 (0.4%) 1.0
Exon 3 Glu352Lys 1054C>T rs61745146 13 (2.5%) 5 (1.9%) 0.80
Exon 3 Thr353Ile 1058G>A   0 (0.0%) 1 (0.4%) 0.34
Exon 3 Lys398Arg 1193T>C rs56314834 1 (0.2%) 1 (0.4%) 1.0
Exon 3 Asp446Tyr 1336C>A   0 (0.0%) 1 (0.4%) 0.34
Exon 3 Lys500Arg 1499T>C   4 (0.8%) 2 (0.7%) 1.0