Table 1 Functional prediction of a novel de novo missense variant in MATN3
Chr. | Position | Gene symbol | Transcript variant | Protein variant | Mutation Taster score | Polyphen-2 | SIFT | Effect |
|---|---|---|---|---|---|---|---|---|
2 | 20,205,723 | MATN3 | 572C > A | p.A191D | 0.999 | 1.000 | 0.02 | - Damaging - Disease causing (amino acid sequence changed) - Protein features (might be) affected) - Affect protein function |