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