Table 4 of
Ayala-Lugo, Mol Vis 2007;
13:151-163.Table 4 of
Ayala-Lugo, Mol Vis 2007;
13:151-163.
Table 4. Frequency of sequence variants that alter the OPTN protein sequence
All case samples were screened and scored for each mutation listed. Absence of a listing for one of the four control groups does not imply that it was screened. Data for M98K appear in Table 5.
Protein change DNA change Exon Ancestry Cases Controls -------------- ------------ ---- --------- ----- -------- E50K c.458 G>A 4 Hispanic 1/11 0/50 I88V c.572 A>G 5 Caucasian 0/217 1/116 A99S c.605 G>T 5 African 0/81 2/88 E322K c.1274 G>A 10 African 1/81 6/88 E322K c.1274 G>A 10 Caucasian 1/217 0/90 691Frameshift 691_692insAG 6 Caucasian 1/217 0/116 R545Q c.1944 G>A 16 Asian 2/5 11/117 |