Table 7 The compound heterozygous variants in the DNAH11 gene in CHD families with heterotaxy syndrome.

Family number	Proband	Gene	Base change	Amino acid change	Mutation type	SIFT^a	Polyphen2^a	Mutation Taster^a	ExAC^b	1000_Genomes Project^b
1	#5031	DNAH11	c.G2406A	p.W802X	Stop-gain	D	NA	A	0	0
1		DNAH11	c.G846C	p.M282I	Missense	D	B	N	<0.001	<0.001
2	#5045	DNAH11	c.C10379A	p.T3460K	Missense	D	D	D	<0.001	<0.001
2		DNAH11	c.G13273A	p.G4425S	Missense	D	D	D	0	0
3	#5065	DNAH11	c.G1339A	p.G447R	Missense	T	B	N	0	0
3		DNAH11	c.T3470G	p.L1157R	Missense	D	D	D	<0.001	<0.001
4	#5130	DNAH11	c.T6785C	p.I2262T	Missense	D	D	D	0	0
4		DNAH11	c.G11398C	p.D3800H	Missense	T	B	D	0	0
5	#5707	DNAH11	c.T8275C	p.F2759L	Missense	T	D	D	<0.001	<0.001
		DNAH11	C13183T	p.R4395X	Stop-gain	NA	NA	A	NA	0
		DNAH11	c. 5470dupC	S1823fs	Frameshift	NA	NA	NA	NA	NA
6	#5062	DNAH11	c.A10829T	p.D3610V	Missense	T	D	D	<0.001	<0.001
6		DNAH11	c.A727G	p.I243V	Missense	T	D	D	<0.001	<0.001

^aMutation assessment by SIFT, PolyPhen-2 (PPH2) and Mutation Taster. T: tolerant; P: probably damaging; D: disease causing; B: Benign; A: disease causing automatic; N: polymorphism.
^bFrequency of corresponding mutations in all populations of the ExAC Browser and 1000 Genomes Project (1KG). NA, not available.

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