Gene mutation in renal coloboma syndrome.

Mutation Taster (http://www.mutationtaster.org) was used to predict potential contributions of individual mutations to disease. Allele frequencies were evaluated using the ExAc database (http://exac.broadinstitute.org). N/A; not appropriate. The score of Mutation Taster is taken from the Grantham Matrix for amino acid substitutions and reflects the physicochemical difference between the original and the mutated amino acid. It ranges from 0.0 to 215 but does not provide a value for amino acid insertions/deletions. A higher Grantham score is indicative of a greater difference in chemical properties between two amino acids and can indicate a stronger effect on protein structure and function.Gene mutation in renal coloboma syndrome.