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(668)

cDNA change

Protein alteration

Genomic reference

RS ID

Location

Protein area

Variation type

SIFT

PolyPhen-2

ACMG classification

Pubmed ID

c.1846C>T

p.Arg616Trp

g.51964895G>A

rs374172791

exon5

MBD6

Missense

Damaging (0.001)

Probably damaging (1.000)

Pathogenic

27022412

c.1839C>T

p.Ile613Ile

g.51964902G>A

rs370476756

exon5

MBD6

Silent

n.a

n.a

Likely benign

21796144

c.1831G>A

p.Glu611Lys

g.51964910C>T

n.a

exon5

MBD6

Missense

/

Probably damaging (0.998)

Likely pathogenic

21219664

c.1820dupA

p.Phe608Valfs*2

g.51964921dup

rs1057516940

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

15524314

c.1817T>G

p.Val606Gly

g.51964924A>C

rs1173050016

exon5

MBD6

Missense

Damaging (0.005)

Probably damaging (0.979)

Likely pathogenic

23235335

c.1803del

p.Ser602Alafs*46

g.51964938del

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

14986826

c.1799_1800del

p.Ala600Aspfs*7

g.51964941_51964942del

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

35220961

c.1789G>A

p.Val597Ile

g.51964952C>T

rs760501309

exon5

MBD6

Missense

/

Probably damaging(0.999)

Likely pathogenic

35315034

c.1782T>A

p.Tyr594*

g.51964959A>T

n.a

exon5

MBD6

Nonsense

n.a

n.a

Pathogenic

27022412

c.1774A>T

p.Ile592Phe

g.51964967T>A

n.a

exon5

MBD6

Missense

Damaging (0.001)

Probably damaging (0.988)

Likely pathogenic

30702195

c.1772G>A

p.Gly591Asp

g.51964969C>T

rs797045402

exon5

MBD6

Missense

Damaging (0.000)

Probably damaging (1.000)

Pathogenic

35220961

c.1760C>T

p.Thr587Met

g.51964981G>A

rs757716093

exon5

MBD6

Missense

/

Benign(0.001)

Likely benign

27022412

c.1757T>A

p.Leu586His

g.51964984A>T

n.a

exon5

MBD6

Missense

/

Probably damaging (1.000)

Likely pathogenic

L2007097869 (Embase)

c.1745_1746delTA

p.Ile582Argfs*25

g.51964995_51964996del

rs753962912

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

27398169

c.1718_1721dup

p.Cys575Aspfs*34

g.51965020_51965023dup

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

15524314

c.1708-53A>C

n.a

g.51965086T>G

n.a

intron4

MBD6

/

n.a

n.a

Benign

L2007097869 (Embase)

c.1708-34G>A

n.a

g.51965067C>T

rs780389157

intron4

MBD6

/

n.a

n.a

Likely benign

35385937

c.1708-5T>C

n.a

g.51965038A>G

rs770829226

intron4

MBD6

Splicing

n.a

n.a

Likely pathogenic

14966923

c.1708-5T>G

n.a

g.51965038A>C

rs770829226

intron4

MBD6

Splicing

n.a

n.a

Likely pathogenic

11405812

c.1708-1G>A

n.a

g.51965034C>T

rs137853280

intron4

MBD6

Splicing

n.a

n.a

Pathogenic

25089800

c.1708-1G>C

n.a

g.51965034C>G

rs137853280

intron4

MBD6

Splicing

n.a

n.a

Pathogenic

9829905

c.1707+5G>A

n.a

g.51968439C>T

n.a

intron4

MBD6

Splicing

n.a

n.a

Uncertain significance

29181760

c.1707+6_+16del

n.a

g.51968428_51968438del

n.a

intron4

MBD6

Splicing

n.a

n.a

Likely pathogenic

36343861

c.1697T>A

p.Ile566Asn

g.51968454A>T

n.a

exon4

MBD6

Missense

Damaging (0.002)

Possibly damaging (0.772)

Likely pathogenic

35220961,31172689

c.1682delG

p.Gly561Alafs*8

g.51968469del

n.a

exon4

MBD5/MBD6

Frameshift

n.a

n.a

Pathogenic

35444691

c.1649dupG

p.Glu552*

g.51968502dup

n.a

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

35385937

c.1649del

p.Gly550Valfs*19

g.51968502del

n.a

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

35220961

c.1648_1654del

p.Gly550Argfs*17

g.51968497_51968503del

rs1951680623

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

15524314

c.1639C>T

p.Gln547*

g.51968512G>A

rs996419100

exon4

MBD5

Nonsense

n.a

n.a

Pathogenic

27022412

c.1620C>T

p.Leu540Leu

g.51968531G>A

rs145798966

exon4

MBD5

Silent/Splicing

n.a

n.a

Likely benign

27022412,33719328

c.1604A>G

p.Glu535Gly

g.51968547T>C

rs756795986

exon4

MBD5

Missense

/

Benign(0.003)

Uncertain significance

35446965

c.1604_1605del

p.Glu535Glyfs*17

g.51968546_51968547del

n.a

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

35220961

c.1595A>G

p.Tyr532Cys

g.51968556T>C

rs375071383

exon4

MBD5

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

35220961

c.1586A>G

p.Glu529Gly

g.51968565T>C

n.a

exon4

MBD5

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

33763395,35220961

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.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.1544-53A>C

n.a

g.51968660T>G

rs2147363

intron3

MBD5

n.a

n.a

n.a

Benign

25089800

c.1544G>T

p.Gly515Val

g.51968607C>A

n.a

exon4

MBD5

Missense

/

Probably damaging (1.000)

Likely pathogenic

16402213

c.1543+1G>T

n.a

g.51970491C>A

rs1360279134

intron3

MBD5

Splicing

n.a

n.a

Pathogenic

18034201

c.1543+4A>G

n.a

g.51970488T>C

n.a

intron3

MBD5

Splicing

n.a

n.a

Pathogenic

27022412

c.1543+13C>T

n.a

g.51970479G>A

rs200171850

/

MBD5

n.a

n.a

n.a

Uncertain significance

35446965

c.1543+40G>A

n.a

g.51970452C>T

rs747219377

intron3

MBD5

n.a

n.a

n.a

Uncertain significance

35470480,36343861

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

35220961

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

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