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

Mukhopadhyay, Mol Vis 2002; 8:442-448 <http://www.molvis.org/molvis/v8/a53/>
©2002 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535