Table 2.

Shanxi PAH 3, 6, 7, 11 and 12 exon mutations.

Exon site	Amino acid change	cDNA change	Type of mutation	Number of alleles	Mutation frequency (%)
3	R111X	c. 331C > T	nonsense	6	5.1
3	H64 > TfsX9	c. 190delC	loss	1	0.8
3	S70 del	c. 208–210delTCT	loss	1	0.8
6	EX6-96A > G	c. 611A > G	splice site	12	10.2
7	R243Q	c. 728G > A	missense	15	12.7
7	G247V	c. 740G > T	missense	1	0.8
7	R252Q	c. 755G > A	missense	1	0.8
7	L255S	c. 764T > C	missense	1	0.8
7	R261Q	c. 782G > A	missense	1	0.8
7	T278I	c. 833C > T	missense	3	2.5
7	E280K	c. 838G > A	missense	1	0.8
IVS7	IVS7+2T > A	c. 842 +2T > A	splice site	6	5.1
11	V399V	c. 1197A > T	splice site	6	5.1
11	Y356X	c. 1068C > A	nonsense	7	5.9
12	A434D	c. 1301C > A	missense	3	2.5
12	R413P	c. 1238G > C	missense	7	5.9
Number				72	61.0
Total				118	100