International Journal of Endocrinology

Research Article

Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis

Table 3

In silico analysis of variants detected in this study.


Gene	Nucleotide change	Amino acid change	SIFT	PolyPhen-2	MutationTaster	FATHMM	M-CAP	MaxEntScan	BDGP	NetGene2

DUOX2	p.P76L	c.227C>T	Damaging	Probably damaging	Disease causing	Tolerated	Possibly pathogenic
DUOX2	p.R432H	c.1295G>A	Damaging	Probably damaging	Disease causing	Damaging	Possibly pathogenic
DUOX2	p.R434_S440del	c.1300_1320delCGAGATATGGGGCTGCCCAGC	NA	NA	disease causing	NA	NA
DUOX2	p.D435G	c.1304A>G	Damaging	Probably damaging	Disease causing	Tolerated	Possibly pathogenic
DUOX2	p.K530X	c.1588A>T	Damaging	NA	Disease causing	NA	NA
DUOX2	p.H678R	c.2033A>G	Tolerated	Benign	Polymorphism	Damaging	NA
DUOX2	p.R683L	c.2048G>T	Damaging	Probably damaging	Disease causing	Damaging	Possibly pathogenic
DUOX2	IVS17+1G>T	c.2148+1G>T	NA	NA	NA	NA	NA	7.16/−1.35	0.78/−	0.71/−
DUOX2	p.V779M	c.2335G>A	Tolerated	Benign	Disease causing	Damaging	NA
DUOX2	p.R885Q	c.2654G>A	Damaging	Probably damaging	Disease causing	NA	Possibly pathogenic
DUOX2	p.S906P	c.2716T>C	Damaging	Probably damaging	Disease causing	Tolerated	Possibly pathogenic
DUOX2	p.M927V	c.2779A>G	Tolerated	Benign	Disease causing	Tolerated	Possibly pathogenic
DUOX2	p.S1067L	c.3200C>T	Damaging	Benign	Polymorphism	Damaging	NA
DUOX2	p.R1110Q	c.3329G>A	Damaging	Probably damaging	Disease causing	Damaging	Possibly pathogenic
DUOX2	p.L1160del	c.3478_3480delCTG	NA	NA	Disease causing	NA	NA
DUOX2	p.R1211H	c.3632G>A	Damaging	Probably damaging	Disease causing	Damaging	Possibly pathogenic
DUOX2	IVS28+1G>T	c.3693+1G>T	NA	NA	NA	NA	NA	8.72/0.22	0.91/−	0.82/−
DUOX2	p.A1323T	c.3967G>A	Damaging	Probably damaging	Disease causing	Tolerated	Likely benign
DUOX2	p.L1343F	c.4027C>T	Tolerated	Probably damaging	Disease causing	Tolerated	Likely benign
DUOX2	p.G1513R	c.4537G>C	Damaging	Probably damaging	Disease causing	Damaging	Possibly pathogenic
DUOX2	p.G1521X	c.4561G>T	NA	NA	Disease causing	NA	NA
DUOXA2	p.R133H	c.398G>A	Tolerated	Probably damaging	Disease causing	Tolerated	Likely benign
DUOXA2	p.Y138fs	c.413dupA	NA	NA	Disease causing	NA	NA
DUOXA2	p.Y246X	c.738C>G	NA	NA	Disease causing	NA	NA
SLC26A4	p.A429E	c.1286C>A	Damaging	Probably damaging	Polymorphism	Damaging	Possibly pathogenic
TG	p.G505D	c.1514G>A	Damaging	Probably damaging	Disease causing	Tolerated	Likely benign
TG	p.C687LfsX34	c.2060_2060delG	NA	NA	Disease causing	NA	NA
TG	IVS10-1G>A	c.2762-1G>A	NA	NA	NA	NA	NA	NA	0.99/−	0.94/0.17
TG	p.S1139L	c.3416C>T	Damaging	Benign	Polymorphism	Tolerated	Likely benign
TG	p.G1456R	c.4366G>A	Tolerated	Benign	Polymorphism	Damaging	Likely benign

SIFT, PolyPhen-2, MutationTaster, FATHMM, and M-CAP were used to predict the effects of missense and indel mutations; MaxEntScan, BDGP, and NetGene2 were used to predict the damaging effects of splicing mutations with a wild-type/mutant score; − means depletion of the 5 splice site; NA: not available.