Table 4 of
Mukhopadhyay, Mol Vis 2002;
8:442-448.
Table 4. Nucleotide changes in MYOC in POAG patients and healthy controls
Sequence Codon Amino acid POAG patients Control subjects change number change Location (%, n=56) (%, n=51) Remarks -------- ------ ---------- -------- ------------- ---------------- -------------------- 144G->T 48 Gln->His Exon 1 3 (5.35%) 0 (0%) Novel mutation 1109C->T 370 Pro->Leu Exon 3 1 (1.78%) 0 (0%) Hotspot for mutation -83G->A NA NA Promoter 41 (73.2%)* 35 (68.6%)* pSNP 227G->A 76 Arg->Lys Exon 1 41 (73.2%)* 35 (68.6%)* cSNP *3 and 6 individuals were homozygous for 'A' allele in patients and controls, respectively Abbreviations: NA, not applicable; pSNP, single nucleotide polymorphism in promoter region; cSNP, single nucleotide polymorphism in coding sequence |