Table 3: Characteristics of potential pathogenic mutations identified in this study.

Nucleotide changePredicted effectLocation in geneDomainaConservation across speciesbControl allele frequencySNP IDComputational predictionc

Splicingc.2113+2_2113+3insTIntron 10Not applicable0/400Not present
Missensec.2714T>Cp.L905PExon 14CDL/L/L/L/L/L/L0/400Not presentDamaging (score 0.00)Probably damagingPathologicalNonneutralC65

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.