Pathogenic variants in the OTULIN gene of ORAS patients
| . | CDS position . | AA alteration . | Software prediction . | Reference . | |||
|---|---|---|---|---|---|---|---|
| SIFT . | PolyPhen-2 . | CADD . | Mutation Taster . | ||||
| Maternal allele | c.455C>T | p.P152L | 0.21 | 0.002 | 21 | Benign | This paper |
| de novo | c.917G>A | p.R306Q | 0 | 0.999 | 32 | Deleterious | This paper |
| ORAS | c.815T>C | p.L272P | 0.03 | 0.999 | 29.2 | Deleterious | Damgaard et al., 2016; Zhou et al., 2016 |
| ORAS | c.731A>G | p.Y244C | 0 | 0.925 | 26.6 | Deleterious | Zhou et al., 2016 |
| ORAS | c.841G>A | p.G281R | 0 | 0.999 | 31 | Deleterious | Damgaard et al., 2019 |
| Atypical ORAS | c.258G>A | p.M86I | 0.5 | 0.191 | 23.2 | ? | Zinngrebe et al., 2022 |
| Atypical ORAS | c.500G>C | p.W167S | 0 | 1 | 31 | Deleterious | Zinngrebe et al., 2022 |
| . | CDS position . | AA alteration . | Software prediction . | Reference . | |||
|---|---|---|---|---|---|---|---|
| SIFT . | PolyPhen-2 . | CADD . | Mutation Taster . | ||||
| Maternal allele | c.455C>T | p.P152L | 0.21 | 0.002 | 21 | Benign | This paper |
| de novo | c.917G>A | p.R306Q | 0 | 0.999 | 32 | Deleterious | This paper |
| ORAS | c.815T>C | p.L272P | 0.03 | 0.999 | 29.2 | Deleterious | Damgaard et al., 2016; Zhou et al., 2016 |
| ORAS | c.731A>G | p.Y244C | 0 | 0.925 | 26.6 | Deleterious | Zhou et al., 2016 |
| ORAS | c.841G>A | p.G281R | 0 | 0.999 | 31 | Deleterious | Damgaard et al., 2019 |
| Atypical ORAS | c.258G>A | p.M86I | 0.5 | 0.191 | 23.2 | ? | Zinngrebe et al., 2022 |
| Atypical ORAS | c.500G>C | p.W167S | 0 | 1 | 31 | Deleterious | Zinngrebe et al., 2022 |
CDS, coding sequence; AA, amino acid; SIFT, Sorting Intolerant From Tolerant (<0.05 = deleterious); PolyPhen-2, Polymorphism Phenotyping v2 (>0.85 is “probably damaging” and <0.15 is “benign”); CADD, Combined Annotation Dependent Depletion (raw values have relative meaning, with higher values indicating a higher likelihood of deleterious effects).