Molecular Vision: Abu-Amero, Mol Vis 2010; 16:2805-2810. Table 4

Table 4. Analysis of non-synonymous sequence changes in the LOXL1 gene detected in the study group.

SNP ID	Nucleotide sequence change	Amino acid change	Location	Interspecies conservation	PolyPhen prediction
rs1048661	g.5758 G>T	R141L	Exon 1	High	Probably damaging
rs3825942	g.5794 G>A	G153D	Exon 1	High	Possibly damaging
Novel	g.25722 C>G	D484E	Exon 4	High	Benign
Novel	g.28084 T>G	Y559D	Exon 6	High	Probably damaging

Non-synonymous indicates sequence change which results in an amino acid change. PolyPhen=Polymorphism Phenotyping is a tool which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations. “Probably damaging” constitutes high confidence of affecting protein function. “Possibly damaging” reflects a likelihood of affecting protein function or structure, while “Benign” changes most likely lack phenotypic effect.