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Table 2 Polymorphisms in ATP7B identified in 103 WD patients

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

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