Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation

Table 2 Genetic characteristics of identified mutations

Pt	Gene	Inheritance	Chr	Variant	dbSNP (Reference)	gnomAD	GERP	CADD	SIFT	PP2	LRT	MT	STATUS (carrier)
#1	STAT1	AD	2q32.2	c.1721A > C p.N574T	na	na	5.73	22.7	T	D	D	D	HZ (De novo)
#2	PTPN22	AD/mt	1p13.2	c.326C > A p.T109N	rs771337900	0.00001	5.41	27.2	D	D	D	D	HZ (mother)
#5	DNASE1L3	AR	3p14.3	c.288_289delCA p.T97Ifs*2	rs751206379 [34, 35]	0.00008	na	na	na	na	na	na	HZ (na)
#10	STAT1	AD	2q32.2	c.862A > G p.T288A	rs387906765 [36]	na	4.5	23.1	D	P	N	D	HZ (De novo)
#15	TNFAIP3	AD	6q23.3	c.C1135T p.Q379X	na	na	5.63	39	na	na	D	D	HZ (mother)

Legend. gnomAD refers to total allele frequency (exomes and genomes); AD autosomal dominant; AR autosomal recessive; mt multifactorial disease; GERP Genomic Evolutionary Rate Profiling; CADD Combined Annotation-Dependent Depletion; SIFT Sorting Intolerant From Tolerant; PP2 Polyphen-2; LRT Likelihood Ratio Test; MT Mutation Taster; T tolerated; D damaging/deleterious; P possibly damaging; N neutral; HZ indicate heterozygous condition; na not available
The “variant” column shows cDNA sequence and Protein (amino acid) change referring to the coordinates of the gene transcript reported in the materials and methods

ISSN: 1546-0096