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.1384_1400del

p.His462Cysfs*38

g.51970635_51970651del

n.a

exon3

MBD4/MBD5

Frameshift

n.a

n.a

Pathogenic

14966923

c.1369C>T

p.Gln457*

g.51970666G>A

rs1951795080

exon3

MBD4/MBD5

Nonsense

n.a

n.a

Pathogenic

10502777

c.1366G>C

p.Val456Leu

g.51970669C>G

rs1801244

exon3

MBD4/MBD5

Missense

/

Benign(0.001)

Benign

8533760

c.1351G>A

p.Gly451Ser

g.51970684C>T

rs186300062

exon3

MBD4/MBD5

Missense

/

Benign(0.004)

Likely benign

L2007097869 (Embase)

c.1340_1343delAAAC

p.Gln447Leufs*50

g.51970692_51970695del

rs1057517444

exon3

MBD4/MBD5

Frameshift

n.a

n.a

Pathogenic

9311736

c.1336G>C

p.Val446Leu

g.51970699C>G

rs587783298

exon3

MBD4/MBD5

Missense

/

Benign(0.000)

Likely benign

9311736

c.1332delC

p.Met445Trpfs*53

g.51970703del

n.a

exon3

MBD4/MBD5

Frameshift

n.a

n.a

Pathogenic

26483271

c.1297_1307del

p.Thr433Trpfs*69

g.51970728_51970738del

n.a

exon3

MBD4/MBD5

Frameshift

n.a

n.a

Pathogenic

35220961

c.1292_1293delGT

p.Cys431Phefs*3

g.51970742_51970743del

n.a

exon3

MBD4/MBD5

Frameshift

n.a

n.a

Pathogenic

9199563

c.1286-93A>C

n.a

g.51970842T>G

rs3742288

intron2

MBD4/MBD5

/

n.a

n.a

Benign

24094725

c.1286-2A>G

n.a

g.51970751T>C

n.a

intron2

MBD4/MBD5

Splicing

n.a

n.a

Pathogenic

17949296

c.1286-1del

n.a

g.51970752del

n.a

intron2

MBD4/MBD5

Splicing

n.a

n.a

Pathogenic

37020998

c.1285+1G>A

n.a

g.51973934C>T

rs1951967108

intron2

MBD4/MBD5

Splicing

n.a

n.a

Pathogenic

30232804

c.1285+2T>A

n.a

g.51973933A>T

rs759749626

intron2

MBD4/MBD5

Splicing

n.a

n.a

Likely pathogenic

10980554

c.1285+5G>T

n.a

g.51973930C>A

rs370579582

intron2

MBD4/MBD5

Splicing

n.a

n.a

Uncertain significance

9671269

c.-1279C>T

n.a

g.52012616G>A

rs111871296

5'UTR

/

UTR

n.a

n.a

Likely pathogenic

24094725

c.1262delG

p.Gly421Aspfs*77

g.51973958del

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

35220961

c.1255G>A

p.Asp419Asn

g.51973965C>T

rs751904611

exon2

MBD4

Missense

/

Possibly damading(0.876)

Uncertain significance

L365167883 (Embase)

c.1252G>A

p.Glu418Lys

g.51973968C>T

n.a

exon2

MBD4

Missense

/

Probably damaging (0.988)

Likely pathogenic

L365167883 (Embase)

c.1252G>T

p.Glu418*

g.51973968C>A

n.a

exon2

MBD4

Nonsense

n.a

n.a

Pathogenic

30702195

c.1242_1243delAG

p.Arg414Serfs*9

g.51973977_51973978del

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

34400371

c.1234G>T

p.Glu412*

g.51973986C>A

rs769190850

exon2

MBD4

Nonsense

n.a

n.a

Pathogenic

17587212

c.1229C>T

p.Pro410Leu

g.51973991G>A

n.a

exon2

MBD4

Missense

/

Benign(0.053)

Likely pathogenic

21645214

c.1219_1220delGT

p.Val407Asnfs*2

g.51974000_51974001del

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

35220961

c.1216T>G

p.Ser406Ala

g.51974004A>C

rs1801243

exon2

MBD4

Missense

/

Benign(0.001)

Benign

7626145

c.1211dupA

p.Asn404Lysfs*6

g.51974009dup

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

19306278

c.1210_1211dup

p.Asn404Lysfs*5

g.51974009_51974010dup

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

35220961

c.1207_1216dup

p.Ser406Leufs*2

g.51974004_51974013dup

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

35220961

c.1195G>C

p.Ala399Pro

g.51974025C>T

rs370203816

exon2

MBD4

Missense

/

Possibly damading(0.758)

Likely pathogenic

L365167883 (Embase)

c.1194T>C

p.Thr398Thr

g.51974026A>G

n.a

exon2

MBD4

Silent

n.a

n.a

Likely benign

L365167883 (Embase)

c.1186delG

p.Glu396Lysfs*12

g.51974034del

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

30232804

c.1186G>C

p.Glu396Gln

g.51974034C>G

rs763051801

exon2

MBD4

Missense

/

Benign(0.298)

Uncertain significance

L365167883 (Embase)

c.1186G>T

p.Glu396*

g.51974034C>A

rs763051801

exon2

MBD4

Nonsense

n.a

n.a

Pathogenic

18483695

c.1185C>T

p.Ala395Ala

g.51974035G>A

rs764551529

exon2

MBD4

Silent

n.a

n.a

Likely benign

23235335

c.*1172G>A

n.a

g.51933584C>T

rs1051332

3'UTR

/

UTR

n.a

n.a

Benign

24094725

c.1168A>G

p.Ile390Val

g.51974052T>C

rs770903362

exon2

MBD4

Missense

Tolerated (0.492)

Benign (0.001)

Uncertain significance

9829905

c.1163dupA

p.Gln389Alafs*16

g.51974057dup

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

L365167883 (Embase)

c.1162C>T

p.Q388*

g.51974058G>A

rs187209079

exon2

MBD4

Nonsense

n.a

n.a

Pathogenic

23235335

c.1154_1155insC/T

p.Glu385Aspfs*20

g.51974067_51974068insG/A

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

22677543

c.1145_1151del

p.Ser382Trpfs*24

g.51974071_51974077del

rs1176709391

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

10502777

c.1144_1434del

Exon 2_exon 3 del

g.51970601_51974076del

n.a

exon2_3

MBD4/MBD5

Large fragment deletion

n.a

n.a

Pathogenic

35357466

c.1142T>G

p.Ile381Ser

g.51974078A>C

rs766943890

exon2

MBD4

Missense

/

Probably damaging (0.967)

Likely pathogenic

23518715

c.1136delG

p.Gly379Alafs*2

g.51974084del

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

9671269

c.1132G>T

p.Glu377*

g.51974088C>A

n.a

exon2

MBD4

Nonsense

n.a

n.a

Pathogenic

L365167883 (Embase)

c.1122C>T

p.Val374Val

g.51974098G>A

rs201254466

exon2

MBD4

Silent

n.a

n.a

Likely benign

10790207

c.1122C>G

p.Val374Val

g.51974098G>C

rs201254466

exon2

MBD4

Silent/Splicing

n.a

n.a

Likely pathogenic

36343861

c.1121delT

p.Val374Alafs*7

g.51974099del

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

35220961

c.1117_1127dup

p.Ile377Valfs*8

g.51974093_51974103dup

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

35220961

c.1112C>T

p.Ala371Val

g.51974108G>A

n.a

exon2

MBD4

Missense

/

Benign (0.001)

Uncertain significance

30230192

c.1109_1110insACCTG

p.Cys370*

g.51974110_51974111insCAGGT

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

34240825

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