Table 2 of Liu, Mol Vis 2012; 18:2241-2246.

Table 2. List of probable glaucoma-causing mutations identified from MYOC exon sequencing in 529 African American POAG subjects and 270 controls.


Exon
location		 Amino
acid
change
Nucleotide
change*		 Number
of
cases		 Number
of
controls		 Age
at
diagnosis
Maximal
IOP		 Cup to
disc
ratio
Exon 2 Thr209Asn 626G>T 1 (0.2%) 0 65 50 0.9
Exon 2 Leu215Gln 644A>T 2 (0.4%) 0 73, 72 23, 16 0.9, 0.9
Exon 3 Gln368X 1102G>A 1 (0.2%) 0 56 25 1.0
Exon 3 Thr377Met 1130G>A 1 (0.2%) 0 47 15 1.0
Exon 3 Ser393Arg 1179G>C 1 (0.2%) 0 75 31 1.0
Exon 3 Tyr453MetfsX11   1 (0.2%) 0 80 25 0.45

*Nucleotides numbered as in Ensembl accession number ENSG00000034971 (transcript ID ENST00000037502). IOP is for intraocular pressure. POAG is for primary open-angle glaucoma.

Liu, Mol Vis 2012; 18:2241-2246. http://www.molvis.org/molvis/v18/a237

©2012 Molecular Vision http://www.molvis.org/molvis/

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