Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network

Table 2

Genotypical characterisation of TRAPS patients. List of abbreviations: TNFRSF1A: tumor necrosis factor receptor super family member 1 A; HGVS: Human Genome Variation Society.

	TNFRSF1A mutation(s)			Frequency
	HGVS sequence name	HGVS protein name	Usual name
Low penetrance	c.123T>G	p.(Asp41Glu)	D12E	3
	c.143A>T	p.(Lys48Ile)	—	1
	c.224C>T	p.(Pro75Leu)	P46L	5
	c.362G>A	p.(Arg121Gln)	R92Q	32
	c.370G>A	p.(Val124Met)	V95M	1
	c.398G>A	p.(Arg133Gln)	R104Q	2
Unknown penetrance	c.1181G>A	p.(Arg394His)	—	1
	Others			3
High penetrance	c.214T>C	p.(Cys72Arg)	C43R	2
	c.215G>A	p.(Cys72Tyr)	C43Y	1
	c.236C>T	p.(Thr79Met)	T50M	10
	c.242G>A	p.(Cys81Tyr)	C52Y	3
	c.244A>G	p.(Arg82Gly)	R53G	2
	c.251G>A	p.(Cys84Tyr)	C55Y	1
	c.262T>C	p.(Ser88Pro)	S59P	2
	c.305G>A	p.(Cys102Tyr)	C73Y	2
	c.349T>G	p.(Cys117Gly)	C88G	1
	c.373T>C	p.(Cys125Arg)	C96R	3
	c.380G>T	p.(Cys127Phe)	—	1
	c.394_399del	p.(Tyr132_Arg133del)	Y103_R104DEL	1
	c.472+1G>A	p.(Cys158delinsYERSSPEAKPSPHPRG)	c.472+1G>A	2
	c.586_612del27	p.(Leu196_Gly204del)	L167_G175del	1