Table 1: Mutation prediction for known and novel GUCA1A variations.

MutationDomainPolyPhen-2aPSIPREDbDystrophyReference
PredictionHuman var scoreProtein secondary structure change

P50LBenign0.132YesCone, rod-cone[3]
L84FPRD0.999NoCone, cone-rod, macularNovel
E89KEF3PSD0.681YesCone[4]
Y99CEF3PRD1.000YesCone, cone-rod, macular[5, 6]
D100EEF3PRD0.999YesCone[4]
N104KEF3PRD0.998YesCone[7]
I107TEF3PRD1.000YesCone, cone-rod, macularNovel
T114IEF3Benign0.009YesAtypical RP[8]
I143NTEF4NPYesCone[8]
L151FEF4PRD1.000YesCone-rod[9, 10]
E155GEF4PRD1.000YesCone[11]
G159VEF4PRD1.000YesCone[4]

PolyPhen-2 appraises mutations qualitatively as benign, possibly damaging (POS), or probably damaging (PRD) based on the model’s false positive rate. NP: not performed.
bPSIPRED was used for secondary structure prediction, and the number of the resulting alterations is given in the table. For PSIPRED analysis, any predicted changes in protein secondary structure were considered to be damaging mutations.