TABLE 3.
Bioinformatic analysis of missense and splicing mutations
| Pat | DNA Variant | Protein variant | Nearest junction | Pathogenicity prediction | Splicing prediction | |||
|---|---|---|---|---|---|---|---|---|
| SIFT | Polyphen2 | CADD | HSF |
NNSplice Ref‐>Mut (alt) |
||||
| P2 | c.396+1G>T | Intronic |
+1 bp, Intron 3 donor |
— | — | — | ++ broken donor site | 0.71 ‐>0.00 |
| P5 | c.4960‐17C>A | Intronic |
−17 bp, Intron 34 acceptor |
— | — | — | + new acceptor site | 0 ‐>0.72 |
| P3 | c.2540G>T | p.(Cys847Phe) |
+3 bp, Intron 18 acceptor |
0.000 | 1.000 | 32.0 | + new ESS | 0.93 ‐>0.94 |
DNA and Protein GenBank Accession: NM_000426.3, NP_000417.2.
Abbreviations: +, potentially affects splicing; 1, probably damaging; 1, tolerated; 10, top 1%; 20, top 0.1%; bp, base pairs; CADD: phred scores; ESE, exonic splicing enhancer; ESS, exonic splicing silencer; HSF: ++, Most probable to effect splicing; Nearest Junction: junction, exon/intron boundary; NNSplice: alt, alternative donor or acceptor site. Score 0 > 1; Pat, patient; Polyphen2: 0, benign; SIFT: 0, deleterious.