Table 1.
Results of bioinformatic analyses.
| DNA Variant | Protein variant | Pathogenicity prediction | Splicing prediction | ||||||
|---|---|---|---|---|---|---|---|---|---|
| LRT | MutationTaste | Fathmm-MKL_coding | CADD | SpliceAI | |||||
| Score | Pred | Score | Pred | Score | Pred | ||||
| c.2749 + 2dup | splicing | — | — | — | — | — | — | — | 0.99 |
| c.8689C>T | p.R2897X | 0 | D | 1 | A | 0.847 | D | 58 | 0.01 |
| Threshold | D: Deleterious; N: Neutral; U: Unknown |
A: Disease causing automatic; D: Disease causing; N: Polymorphism; P: Polymorphism automatic |
D: Deleterious; T: Tolerated |
>10 | >0.5 | ||||
Score of LRT, MutationTaster, Fathmm-MKL_coding and SpliceAI: 0-1.
CADD, Combined Annotation Dependent Department; threshold: 10, the higher the value, the higher the probability that the mutation site is a harmful mutation.