Table 2 of Li, Mol Vis 2011; 17:3326-3332.


Table 2. Mutations in the 15 genes detected in 83002 family with LCA and in 192 chromosomes of controls.



Gene

Nucleotide
change
Amino
acid
change


Conservation


Computational prediction


Remark
Occurance
in
controls


Report
        Blosum62* PolyPhen or Splice Site SIFT      
CRB1 c.3221T>C L1074S Yes 6 probably damaging damaging Pathogenic 0/192 This study
  c.2677–2A>C N/A N/A N/A splicing site abolished N/A Pathogenic 0/192 This study
SPATA7 c.938C>A A313D Yes 6 probably damaging damaging Pathogenic 0/192 This study