International Wilson Disease Mutation Database-国际肝豆状核变性基因突变数据库

Welcome to our Wilson Disease Mutation Database

Result(1610)

cDNA change

Protein alteration

Genomic reference

RS ID

Location

Protein area

Variation type

SIFT

PolyPhen-2

ACMG classification

Pubmed ID

c.1594T>G

p.Tyr532Asp

g.51968557A>C

n.a

exon4

MBD5

Missense

/

/

Likely pathogenic

37737146

c.1586A>G

p.Glu529Gly

g.51968565T>C

n.a

exon4

MBD5

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

22677543

c.1571T>C

p.Met524Thr

g.51968580A>G

n.a

exon4

MBD5

Missense

Damaging (0.012)

Probably damaging (0.976)

Likely pathogenic

35220961,33763390

c.1568T>A

p.Leu523*

g.51968583A>T

rs773385516

exon4

MBD5

Nonsense

n.a

n.a

Likely pathogenic

16088907

c.1561G>A

p.Val521Ile

g.51968590C>T

rs1951685983

exon4

MBD5

Missense

/

/

Uncertain significance

36096368

c.1555G>A

p.Val519Met

g.51968596C>T

rs192957846

exon4

MBD5

Missense

/

Probably damaging (0.999)

Likely pathogenic

16644258

c.1554C>T

p.Ser518Ser

g.51968597G>A

rs551051945

exon4

MBD5

Silent/Splicing

n.a

n.a

Likely pathogenic

35220961,33719328

c.1552_1553delTC

p.Ser518Argfs*15

g.51968598_51968599del

n.a

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

27022412

c.1545delT

p.Val516Phefs*8

g.51968606del

n.a

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

27022412

c.1544dupG

p.Val516Cysfs*18

g.51968607dup

n.a

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

10721669

c.1544G>A

p.Gly515Asp

g.51968607C>T

n.a

exon4

MBD5

Missense

/

Probably damaging (1.000)

Likely pathogenic

23551039

c.1544G>T

p.Gly515Val

g.51968607C>A

n.a

exon4

MBD5

Missense

/

Probably damaging (1.000)

Likely pathogenic

16402213

c.1544-53A>C

n.a

g.51968660T>G

rs2147363

intron3

MBD5

n.a

n.a

n.a

Benign

15967699

c.1544-3delC

n.a

g.51968610del

n.a

intron3

MBD5

Splicing

n.a

n.a

Uncertain significance

10721669

c.1544-2A>C

n.a

g.51968609T>G

rs1555294398

intron3

MBD5

Splicing

n.a

n.a

Pathogenic

22484412

c.1544-2A>G

n.a

g.51968609T>C

rs1555294398

intron3

MBD5

Splicing

n.a

n.a

Pathogenic

17949296

c.1543G>A

p.Gly515Ser

g.51970492C>T

rs1317459270

exon3

MBD5

Missense

/

Probably damaging (1.000)

Likely pathogenic

33640437

c.1543+1G>A

n.a

g.51970491C>T

rs1360279134

intron3

MBD5

Splicing

n.a

n.a

Pathogenic

30120852

c.1543+1G>C

n.a

g.51970491C>G

rs1360279134

intron3

MBD5

Splicing

n.a

n.a

Pathogenic

15024742

c.1543+1G>T

n.a

g.51970491C>A

rs1360279134

intron3

MBD5

Splicing

n.a

n.a

Pathogenic

9671269

c.1543+4A>G

n.a

g.51970488T>C

n.a

intron3

MBD5

Splicing

n.a

n.a

Pathogenic

27022412

c.1543+40G>A

n.a

g.51970452C>T

rs747219377

intron3

MBD5

Splicing

n.a

n.a

Likely pathogenic

35470480,36343861

c.1543+51G>A

n.a

g.51970441C>T

rs151202111

intron3

MBD5

/

n.a

n.a

Benign

17823867

c.1531C>T

p.Gln511*

g.51970504G>A

rs1449610384

exon3

MBD5

Nonsense

n.a

n.a

Pathogenic

16402213

c.1529T>C

p.Leu510Pro

g.51970506A>G

n.a

exon3

MBD5

Missense

Damaging (0.005)

Probably damaging (1.000)

Likely pathogenic

35220961

c.1529T>G

p.Leu510Arg

g.51970506A>C

n.a

exon3

MBD5

Missense

Damaging (0.002)

Probably damaging (1.000)

Likely pathogenic

35220961

c.1520_1523delAAAG

p.Glu507Glyfs*16

g.51970512_51970515del

rs772000260

exon3

MBD5

Frameshift

n.a

n.a

Pathogenic

10502777

c.1517_1518delTA

p.Ile506Argfs*27

g.51970517_51970518del

n.a

exon3

MBD5

Frameshift

n.a

n.a

Pathogenic

14986826

c.1517T>A

p.Ile506Lys

g.51970518A>T

rs1951786469

exon3

MBD5

Missense

/

/

Uncertain significance

38964899

c.1514_1515insT

p.Ile506Hisfs*28

g.51970520_51970521insA

n.a

exon3

MBD5

Frameshift

n.a

n.a

Pathogenic

8533760

c.1512dupT

p.Asn505*

g.51970523dup

rs1057516418

exon3

MBD5

Frameshift

n.a

n.a

Pathogenic

10502776

c.1510_1511insA

p.Ser504Tyrfs*2

g.51970524_51970525insT

n.a

exon3

MBD5

Frameshift

n.a

n.a

Pathogenic

34470610

c.1494delC

p.Cys499Valfs*8

g.51970541del

n.a

exon3

MBD5

Frameshift

n.a

n.a

Pathogenic

23518715

c.1492A>T

p.Thr498Ser

g.51970543T>A

rs191631804

exon3

MBD5

Missense

/

Probably damaging (1.000)

Likely pathogenic

23843956

c.1487delG

p.Gly496Alafs*2

g.51970548del

n.a

exon3

MBD5

Frameshift

n.a

n.a

Pathogenic

30232804

c.1481T>A

p.Ile494Asn

g.51970554A>T

n.a

exon3

MBD5

Missense

/

Probably damaging (0.994)

Likely pathogenic

30230192

c.1475T>C

p.Leu492Ser

g.51970560A>G

rs1566580253

exon3

MBD5

Missense

Damaging (0.001)

Probably damaging (0.962)

Pathogenic

9671269

c.1473C>T

p.Phe491Phe

g.51970562G>A

n.a

exon3

MBD5

Silent

n.a

n.a

Likely benign

24094725

c.1470C>A

p.Cys490*

g.51970565G>T

rs778675259

exon3

MBD5

Nonsense

n.a

n.a

Pathogenic

9829905

c.1470delC

p.Phe491Serfs*7

g.51970565del

n.a

exon3

MBD5

Frameshift

n.a

n.a

Pathogenic

23518715

c.1456G>T

p.Ala486Ser

g.51970579C>A

rs1282624946

exon3

MBD4/MBD5

Missense

/

Benign (0.002)

Pathogenic

11216666

c.-1449A>G

n.a

g.52012786T>C

rs77505745

5'UTR

/

UTR

n.a

n.a

Likely benign

24094725

c.1449_1456del

p.Arg483Serfs*20

g.51970579_51970586del

n.a

exon3

MBD4/MBD5

Frameshift

n.a

n.a

Pathogenic

21219664

c.1442C>G

p.Ser481*

g.51970593G>C

n.a

exon3

MBD4/MBD5

Nonsense

n.a

n.a

Pathogenic

31059521

c.1436delC

p.Pro479Hisfs*19

g.51970599del

n.a

exon3

MBD4/MBD5

Frameshift

n.a

n.a

Pathogenic

15024742

c.1426G>A

p.Ala476Thr

g.51970609C>T

rs139289704

exon3

MBD4/MBD5

Missense

Tolerated (0.674)

Benign (0.001)

Uncertain significance

20465995

c.1415C>G

p.Pro472Arg

g.51970620G>C

rs771789585

exon3

MBD4/MBD5

Missense

/

Benign(0.230)

Likely pathogenic

30230192

c.1403_1416del

p.Ala468Glyfs*33

g.51970619_51970632del

n.a

exon3

MBD4/MBD5

Frameshift

n.a

n.a

Pathogenic

27022412

c.1396C>G

p.Leu466Val

g.51970639G>C

rs1332336900

exon3

MBD4/MBD5

Missense

/

Benign(0.001)

Uncertain significance

7626145

c.*1385G>A

n.a

g.51933371C>T

rs41292780

3'UTR

/

UTR

n.a

n.a

Uncertain significance

24094725

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