Table 5 of
van den Hurk, Mol Vis 2005;
11:263-273.Table 5 of
van den Hurk, Mol Vis 2005;
11:263-273.
Table 5. Amino acid substitutions detected in the CRB2 gene
Eleven amino acid subsitutions were identified by mutation analysis of 85 RP patients and 79 LCA patients. The frequency of these substitutions was analyzed in control individuals. In addition, we determined whether these amino acid changes are conservative or nonconservative with respect to charge, size, and polarity, the likelihood that the amino acids are replaced during evolution (Blosum62 score), and whether they are conserved in homologous domains of Crumbs, CRB1 and CRB2. Numbering is based on GenBank entry AY720432.
Amino acid Protein Control Nature of Blosum Conserved change domain alleles substitution score residue ------ ------- ------- ------------------ ------ --------- P46L EGF1 nonconservative -3 Yes V97L EGF2 0/372 aliphatic 1 No P116L EGF3 0/352 nonconservative -3 Yes M145T EGF3 62/160 nonconservative -1 Yes G159A EGF4 60/160 small hydrophobic 0 Yes E187D EGF5 0/346 neg. charged polar 2 Yes A351T EGF8 nonconservative 0 No R534Q G1 0/356 nonconservative 1 No R610W EGF11 2/330 nonconservative -3 No H746Q G2 3/344 nonconservative 0 No T1110M EGF15 36/346 nonconservative -1 No |