Research Article
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis
Table 3
Characteristics of potential pathogenic mutations identified in this study.
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indicates RetGC-1 (protein encoded by GUCY2D) domain; CD = catalytic domain. bdenotes human/cow/dog/rat/mouse/zebrafish/fruit fly GUCY2D orthologs (sequences selected from the DDBJ/EMBL/GenBank database). Accession numbers were NM_000180 (human), NM_174548 (cow), NM_001003207 (dog), NM_024380 (rat), NM_008192 (mouse), NM_131866 (zebrafish), and NM_001202237 (fruit fly). L indicates leucine. cAll models used to evaluate the missense mutation suggested that the mutation is pathogenic. The Align-GVGD analysis results are graded from C0 to C65, where C0 indicates a benign mutation and C65 indicates that the mutation is most likely pathogenic. |