Table 2 of
Acharya, Mol Vis 2006;
12:399-404.Table 2 of
Acharya, Mol Vis 2006;
12:399-404.
Table 2.
Single nucleotide polymorphisms (SNP) detected in CYP1B1 in eastern Indian POAG patients and controls. Most of the SNPs with higher minor allele frequency were reported in other population groups. Among novel SNPs only one (Val518Ala) was found to be polymorphic and others (Val395Val, Pro400Pro, and the SNP in the 3'-UTR) were rare variants detected only in patient group but no functional implication could be predicted. NA indicates not applicable.
Position Changes
Nucleotide in the Amino acid -------------------
change gene SNP status dbSNP ID change Patients Controls
---------- -------- ------------ --------- ---------- -------- --------
372-12C>T Intron 1 Reported rs2617266 NA 46/200 22/100
c. 514C>G Exon 2 Reported rs10012 Arg48Gly 87/200 39/100
c. 727G>T Exon 2 Reported rs1056827 Ala119Ser 87/200 39/100
c.1557G>C Exon 3 Novel Val395Val 1/200 0/100
c.1572T>C Exon 3 Novel Pro400Pro 2/200 0/100
c.1666G>C Exon 3 Reported rs1056836 Val432Leu 102/200 59/100
c.1719T>C Exon 3 Reported rs1056837 Asp449Asp 102/200 60/100
c.1730A>G Exon 3 Reported rs1800440 Asn453Ser 33/200 14/100
c.1925T>C Exon 3 Novel Val518Ala 29/200 18/100
C.2016C>G 3'-UTR Novel NA 5/200 0/100
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