Table 3 of Benaglio, Mol Vis 2014; 20:843-851.

Table 3. Characterization of novel changes identified in the complete screening.

Patient’s origin Gene Change Polyphen prediction PON-P prediction Controls Segregation
German PRPF4 p.Pro187Ala Probably damaging Unclassified, Probability of pathogenicity: 0.27 0/189 Positive
American Indian- French Canadian/Irish EFTUD2 p.Arg220Cys Probably damaging Pathogenic, Probability of pathogenicity: 0.91 0/150 Positive
- EFTUD2 p.Ile80Leu Benign Neutral, Probability of pathogenicity: 0.02 Not available Not available
Italian NHP2L1 chr22:42078408 NM_005008.2:c.-46G>A
Creation of upstream out of frame ORF 0/150 Negative

Prediction of pathogenicity was made using Polyphen and PON-P [22]. In addition to database consultation, in-house controls were performed by direct Sanger sequencing (PRPF4) or restriction enzymes (EFTUD2 and NHP2L1).

Benaglio, Mol Vis 2014; 20:843-851. http://www.molvis.org/molvis/v20/843

©2014 Molecular Vision http://www.molvis.org/molvis/

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