Table 1 of
Acharya, Mol Vis 2006;
12:399-404.Table 1 of
Acharya, Mol Vis 2006;
12:399-404.
Table 1.
CYP1B1 mutations in unrelated POAG patients. In the "Amino acid change" column, the initial amino acid is conserved in human, mouse, and rat. The SIFT score predicts phenotypic effect. A SIFT score <0.05 is predicted to be deleterious, while a SIFT score equal to or greater than 0.05 is tolerated.
Amino Changes
Nucleotide acid Mutation SIFT -------------------
change Location change status Genotype score Patients Controls
---------- -------- ------ ----------- ------------ ----- -------- --------
c.543G>T Exon 2 W57C Reported Heterozygous 0.00 1/200 0/100
in PCG
c.1057G>A Exon 2 E229K Reported in Heterozygous 0.04 1/200 0/100
PCG & POAG
c.1475G>A Exon 3 R368H Reported Heterozygous 0.00 1/200 0/100
in PCG
c.1916C>T Exon 3 S515L Novel Heterozygous 0.22 4/200 0/100
c.1940G>C Exon 3 R523T Novel Homozygous 0.00 1/200 0/100
c.1961A>G Exon 3 D530G Novel Heterozygous 0.01 1/200 0/100
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