Figure 1 of Pandaranayaka, Mol Vis 2010; 16:2891-2902.


Figure 1. Full length myocilin is of 504 residues. The stop codon mutations Arg46Stop, Asp247Stop, Gln368Stop, Glu483Stop) in mutated myocilin contains 45 residues, 246 residues, and 367 residues, 482 residues, respectively and the rest of the region gets deleted. SNP121 results in shorter protein product containing 410 residues with amino acids 244 to 337 deleted from full length myocilin protein. SNP12 (rs2032555) consists of 248 residues with 243 to 248 residues altered from the full length myociln and the rest of the region from amino acid 249 to 504 deleted. SNP22 (rs10690049) has 218 residues with altered amino acids from 201 to 218 and 219 to 504 residues deleted. SNP67 (rs9600235) with 273 residues, 202 to 273 residues altered and 274 to 504 residues deleted. SNP68 (rs11295938) with 270 residues, 201 to 270 residues altered and 271 to 504 residues deleted. SNP88 (rs11366556) with 214 residues, 201 to 214 residues altered and 215 to 504 residues deleted. The maroon colored regions indicate sequence changes introduced because of the possible alternate splicing due to the Single nucleotide polymorphism indicated.