Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series

Table 2 AIRE gene mutations in included patients with APS1

Domain	Cases	Location	Nucleotide alteration	Amino acids change	Heterozygosity	MAF in Esp6500/ 1000g_All/ExAC	Predicted in SIFT/Polyphen2-HVAR/MutationTaster	Reported (PubMed ID)
HSR/CARD	4	Exon 1	c.T38C	p.L13P	Het	–/–/–	B/D/D	28911151
	7	Exon 2	c.A206C	p.Q69P	Hom	–/–/–	D/P/D	28540407
	2	Exon 2	c.A269G	p.Y90C	Hom	–/–/–	D/D/D	9837820
NLS	1	Exon 4	c.484dupC	p.K161fs	Hom	–/-/–	–/–/–	No
SAND	8	Exon 5	c.623G > T	p.G208V	Het	–/–/–	D/D/D	No
SAND	6	Exon 6	c.737delC	p.A246fs	Het	–/–/–	–/–/–	No
PHD1	6	Exon 8	c.C922T	p.L308F	Het	–/–/–	D/D/D	No

APS1, autoimmune polyendocrine syndrome type 1. GenBank accession number of AIRE: NM_000383; MAF, minimum allele frequencies; ESP, NHLBI Exome Sequencing Project; 1000 g: 1000 genomes browser; ExAC, Exome Aggregation Consortium; SIFT, sorting intolerant form tolerant; Polyphen2-HVAR, polymorphism phenotyping version 2; HSR, homogeneously staining region; CARD, caspase recruitment domain; NLS, nuclear localization signal; PHD, plant homeodomain; Het, heterozygous; Hom, homozygous; “–” indicates that data are not available; B, benign; D, deleterious; P, probably deleterious. CARD/HSR, amino acids 1–105; SAND, amino acids 181–280; two plant homeodomain (PHD) fingers type zinc fingers (amino acids 296–343 and 434–475); four LXXLL domains that are found on coactivators of nuclear receptors (amino acids 7–11, 63–67, 414–418, and 516–520) and a nuclear localization signal (amino acids 100–189)

ISSN: 1750-1172