Table 1.

Compound heterozygous variants in the OTULIN gene in a patient with autoinflammation and sterile abscess formation.

	Nucleotide alteration	CDS position	AA alteration	domain	SIFT	PolyPhen
Paternal allele	Chr5: 14678818G>A	c.258G>A	p.M86I	OTU	0.11	0.31
Maternal allele	Chr5: 14687661G>C	c.500G>C	p.W167S	OTU	0	0.998

CDS, coding sequence; AA, amino acid; SIFT, Sorting Intolerant From Tolerant (< 0.05 = deleterious); PolyPhen, Polymorphism Phenotyping (> 0.908 “Probably Damaging”, 0.446–0.908 “Possibly Damaging”, < 0.446 “Benign”).