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

• Difference between the scores. Except for mutations in CRB1 and SPATA1, no other changes were detected in 13 other LCA genes, including GUCY2D, RPE65, RPGRIP1, AIPL1, LCA5, CRX, LRAT, TULP1, RDH12, CEP290, RD3, IMPDH1 and OTX2.

Li, Mol Vis 2011; 17:3326-3332. http://www.molvis.org/molvis/v17/a358

©2011 Molecular Vision http://www.molvis.org/molvis/

ISSN 1090-0535