Table 1 ATP7B gene mutations in 58 Chinese WD probands

Missense

*c.1831 G > A

GAA > AAA

p.Glu611Lys

5

Cu6

Cu6

c.2128 G > A

GGT > AGT

p.Gly710Ser

8

TM2

Affects copper transport

c.2293 G > A

GAC > AAC

p.Asp765Asn

8

TM4

Disrupt cation channel&Tm4

c.2305 A > G

ATG > GTG

p.Met769Val

8

TM4

Affects copper transport

c.2333 G > T

CGG > CTG

p.Arg778Leu

8

TM4

Disrupt cation channel&Tm4

*c.2620 G > C

GCG > CCG

p.Ala874Pro

11

TM5

Affects copper transport

c.2621 C > T

GCG > GTG

p.Ala874Val

11

TM5

Affects copper transport

c.2662 A > C

ACC > CCC

p.Thr888pro

11

TM5

Affects copper transport

c.2755 C > G

CGG > GGG

p.Arg919Gly

12

TM5

Affects copper transport

c.2785 A > G

ATC > GTC

p.Ile929Val

12

TM5

Affects copper transport

c.2804 C > T

ACG > ATG

p.Thr935Met

12

TM5

Disrupt cation channel&Tm5

c.2924 C > A

TCC > TAC

p.Ser975Tyr

13

TM6

Disrupt cation channel&Tm6

c.2939 G > A

TGC > TAC

p.Cys980Tyr

13

TM6

Disrupt cation channel&Tm6

c.2975 C > T

CCC > CTC

p.Pro992Leu

13

TM6

Disrupt cation channel&Tm6

*c.3041 C > T

CCC > CTC

p.Pro1014Leu

13

TM6

Affects copper transport

c.3284 A > C

CAG > CCG

p.Gln1095Pro

15

ATP loop

Disrupts ATP binding

*c.3310 T > C

TGC > CGC

p.Cys1104Arg

15

ATP loop

Disrupts ATP binding

c.3316 G > A

GTC > ATC

p.Val1106ILe

15

ATP loop

Disrupts ATP binding

c.3426 G > C

CAG > CAC

p.Gln1142His

16

ATP loop

Disrupts ATP binding

c.3443 T > C

ATT > ACT

p.Ile1148Thr

16

ATP loop

Disrupts ATP binding

*c.3446 G > A

GGA > GAA

p.Gly1149Glu

16

ATP loop

Disrupts ATP binding

c.3452 G > A

CGT > CAT

p.Arg1151His

16

ATP loop

Disrupts ATP binding

c.3532 A > G

ACA > GCA

p.Thr1178Ala

16

ATP loop

Disrupts ATP binding

c.3646 G > A

GTG > ATG

p.Val1216Met

17

ATP bind

Disrupts ATP binding

*c.3796 G > C

GGG > CGG

p.Gly1266Arg

18

ATP loop

Disrupts ATP binding

*c.3799 G > A

GAT > AAT

p.Asp1267Asn

18

ATP hinge

Disrupt ATP hinge

c.3809 A > G

AAT > AGT

p.Asn1270Ser

18

ATP hinge

Disrupt ATP hinge

c.3889 G > A

GTC > ATC

p.Val1297Ile

18

ATP hinge

Disrupt ATP hinge

*c.4003 G > C

GGG > CGG

p.Gly1335Arg

19

TM7

Disrupt cation channel& Tm7

Nonsense

*c.994 G > T

GAA > TAA

p.Glu332X

2

Cu4

Truncates protein

c.1470 C > A

TGC > TGA

p.Cys490X

3

Cu5

Truncates protein

Deletion

*c.813delC

TTGCGTCT

p.Cys271TrpfsX3

2

Cu3

Frame shift/Truncates protein

*c.1448_1455del

CCAGAGCAGTGGCA

p.Arg483SerfsX20

3

Cu5

Frame shift/Truncates protein

*c.2510delG

GGGGAAA

p.Gly837GlufsX35

10

TM4

Frame shift/Truncates protein

Insertion

c.2304dupC

CCCCATG

p.Met769HisfsX26

8

TM4

Frame shift/Truncates protein

c.2464dupA

CCAATGG

p.Met822AsnfsX32

10

TM4

Frame shift/Truncates protein

*c.3157dupC

CCCCTCA

p.Leu1053ProfsX16

14

ATP loop

Frame shift/Truncates protein

*c.3843dupT

GGTTGTG

p.Val1282CysfsX22

18

ATP hinge

Frame shift/Truncates protein

Splice site

c.1708-5T > G

ttg > tgg

p.IVS4-5 T > G

5

Cu6

abnormal splicing

c.4124 + 5G > A

gag > gaa

p.IVS20 + 5 G > A

20

TM8

abnormal splicing