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.

 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

van den Hurk, Mol Vis 2005; 11:263-273 <>
©2005 Molecular Vision <>
ISSN 1090-0535