Table 1. Pathogenic variants in the... | Rockefeller University Press

Table 1.

Pathogenic variants in the OTULIN gene of ORAS patients

	CDS position	AA alteration	Software prediction				Reference
	CDS position	AA alteration	SIFT	PolyPhen-2	CADD	Mutation Taster	Reference
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
	CDS position	AA alteration	SIFT	PolyPhen-2	CADD	Mutation Taster	Reference
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).

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