Wilson disease: Identification of two novel mutations and clinical correlation in Eastern Chinese patients

Table 1 Mutations identified in WD chromosomes

Mutation	Nucleotide change	Exon	Predicted effect	Frequency of WD alleles (%)	Frequency of WD alleles in Caucasian patients (%)
Asp96Gly	287A>G	2	Disrupts Cu 1	8	novel
Asp196Glu	588C>A	2	Disrupts Cu 2	2	novel
Arg778Leu1	2333G>T	8	Disrupts TM4	50	2
Pro992Leu2	2975C>T	13	Disrupts Ch/TM6	27	2
Val1216Met3	3646G>A	17	Disrupts ATP binding	3	< 1

¹Mutation previously described[5].

²Mutation previously described[1].

³Mutation previously described[1].

Table 2 Polymorphism identified at the ATP7B locus

Polymorphism	Nucleotide change	Exon	Frequency (%)
			Healthy individuals (n = 100)	Patients(n = 50)
-75 A > C1		5’UTR	38	10
-123 del CGCCG1		5’UTR	10	25
S406A1	1216 T>G	2	35	30
V456L1	1366 G>C	3	36	22
L770L2	2310 C>G	8	2	50
K832R2	2495 G>A	10	27	30
S1166S3	3498 C>T	16	19	20

¹Polymorphism previously described[12].

²Polymorphism previously described[12].

³Polymorphism previously described[13].