Molecular Vision: Abu-Amero, Mol Vis 2011; 17:2911-2919. Table 4

Table 4. Analysis of the non-synonymous sequence changes detected in the PCG patients.

Nucleotide change	Protein change	Mutation type	Allele frequency in PCG	Allele frequency in controls	Interspecies conservation	PolyPhen	Novel	Reference
g.3987G>A	G61E	Missense	0.57	0.03	High	Probably damaging	No	[8,32,40,41]
g.4160G>T	A119S	Missense	0.02	0	Low	Benign	No	[8,42]
g.4238_4247del	Del+FS	Del+FS	0.01	0	High	-	No	[6]
g.7900C>T	R355X	Nonsense	0.01	0	High	-	No	[18]
g.7901_7913del	Del+FS	Del+FS	0.02	0	High	-	No	[27]
g.8006G>A	R390H	Missense	0.02	0	High	Probably damaging	No	[18,29]
g.8147C>T	P437L	Missense	0.02	0	High	Probably damaging	No	[18,25,40]
g.8159A>G	D441G	Missense	0.02	0	Medium	Possibly damaging	Yes	This report
g.8165C>G	A443G	Missense	0.01	0	Low	Benign	No	[25,41,43]
g.8167C>T	R444X	Nonsense	0.02	0	High	-	No	[18]
g.8233G>A	G466S	Missense	0.01	0	Low	Benign	Yes	This report
g.8234G>A	G466D	Missense	0.02	0	High	Probably damaging	No	[24]
g.8242C>T	R469W	Missense	0.04	0	High	Probably damaging	No	[8,18,[40]

PolyPhen pathogenicity prediction was assessed using the PolyPhen2 database. “Probably Damaging” constitutes a high confidence of affecting protein function or structure. “Possibly Damaging” reflects a likelihood of affecting protein function or structure, while “Benign” changes most likely lack phenotypic effect. “Unknown” means that PolyPhen could make no prediction due to lack of data and (-) indicate that PolyPhen is not designed to predict the effect on protein function for deletions and nonsense mutations.