Clinical Study
Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients
Table 1
Mutation prediction for known and novel GUCA1A variations.
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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. |