Mutation analysis of the ATP7B gene and genotype–phenotype correlation in Chinese patients with Wilson disease

BMC Gastroenterology

Table 2 Polymorphisms in ATP7B identified in 103 WD patients

Exon	Nucleotide change	Polymorphism	Nucleotide sequence	Area of protein	Type	Frequency (%) [Patients (n = 103)]
1	9A>G	Glu3Glu	GAG > GGA	Before Cu1	Missense	89.47
2	870G>C	Val1290Val	GTG > GTC	Cu3	Silent	95.14
2	1216T>G	Ser406Ala	TCT > GCT	Cu4	Missense	87.37
2	1168A>G	Ile390Val	ATA > GTA	Cu4	Missense	0.97
3	1366G>C	Leu456Val	GTG > CTG	Cu4/Cu5	Missense	87.37
8	2310C>G	Leu770Leu	CTC > CTG	TM4	Silent	35.92
10	2495G>A	Arg832Lys	AGG > AAG	TM4/Td	Missense	66.02
12	2855G>A	Arg952Lys	AGA > AAA	TM5	Missense	74.76
12	2785A>G	Ile929Val	ATC > GTC	TM5	Missense	0.97
13	3009G>A	Ala1003Ala	GCG > GCA	Bet TM6/Ph	Silent	3.88
13	2913T>A	Ala971Ala	GCT > GCA	TM6	Silent	0.97
14	3188C>T	Ala1063Val	GCG > GTG	ATP loop	Missense	0.97
16	3419T>C	Val1140Ala	GTC > GCC	ATP loop	Missense	75.73
18	3889G>A	Val1297Ile	GTC > ATC	ATP hinge	Missense	1.94
18	3798G>T	Gly1266Gly	GGG > GGT	ATP hinge	Silent	1.94

ISSN: 1471-230X