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Table 2 Pathogenic VPS33B mutations listed in the ARC-LOVD database

From: Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome: from molecular genetics to clinical features

Database ID

Exon

DNA change

Status

Protein change

Ethnicity

Reference

VPS33B_00235

1-23

c.(?_-354)_(*431 + d127_?)del

Het

p.(0?)

Hispanic

[14]

VPS33B_00232

4

c.240-577_290-156del

Het

p.(Leu81Serfs*5)

South American

[14]

VPS33B_00221

1

c.67C > T

Het

p.(Arg23*)

-

[14]

VPS33B_00001

1

c.89 T > C

Hom

p.(Leu30Pro)

Pakistani

[3]

VPS33B_00223

1i

c.97-2A > C

Hom

p.(?)

-

[14]

VPS33B_00002

2

c.151C > T

Het

p.(Arg51*)

French

[8]

VPS33B_00011

2i

c.177 + 1G > A

Hom

p.(?)

Italian

[3]

VPS33B_00231

2i

c.178-2A > C

Hom

p.(?)

Turkish

[14]

VPS33B_00224

2i

c.178-1G > C

Hom

p.(?)

Pakistani

[14]

VPS33B_00233

3i

c.240-1G > C

Hom

p.(?)

-

[14]

VPS33B_00003

4

c.277C > T

Het

p.(Arg93*)

South American

[8]

VPS33B_00004

5

c.319C > T

Het

p.(Arg107*)

Scottish

[8]

VPS33B_00005

5

c.352C > T

Hom

p.(Gln118*)

Turkish

[7]

VPS33B_00023

5

c.350del

Hom

p.(Pro117Leufs*20)

Saudi Arabia

[3]

VPS33B_00024

6

c.369_370del

Het

p.(Cys123*)

South American

[8]

VPS33B_00013

6i

c.403 + 1G > T

Het

p.(?)

Scottish

[8]

VPS33B_00012

6i

c.403 + 1G > A

Het

p.(?)

Israel

[3]

VPS33B_00014

6i

c.403 + 2 T > A

Het

p.(?)

Korean

[7]

VPS33B_00025

7

c.436_445del

Het

p.(Leu146Metfs*5)

French

[8]

VPS33B_00015

7i

c.498 + 1G > A

Het

p.(?)

Swedish

[4]

VPS33B_00026

8

c.558_559del

Het

p.(Tyr187Trpfs*18)

Italian

[8]

VPS33B_00006

9

c.661C > T

Het

p.(Arg221*)

Korean

[21]

VPS33B_00016

9i

c.701-1G > C

Hom

p.(?)

Israel

[25]

VPS33B_00017

9i

c.700 + 1G > A

Het

p.(?)

Saudi Arabia

[15]

VPS33B_00225

10

c.711del

Het

p.(Phe237Leufs*2)

Pakistani

[14]

VPS33B_00007

10

c.728C > T

Het

p.(Ser243Phe)

Korean

[7]

VPS33B_00027

10

c.740_741del

Het

p.(Tyr247*)

Korean

[7]

VPS33B_00226

11i

c.853-3C > G

Hom

p.(?)

Turkish

[14]

VPS33B_00019

11i

c.853-2A > G

Het

p.(?)

Portuguese

[3]

VPS33B_00018

12i

c.940-1G > A

Het

p.(?)

French

[8]

VPS33B_00028

13

c.971del

Hom

p.(Lys324Argfs*11

Pakistani

[17]

VPS33B_00227

13i

c.1030 + 5G > T

Hom

p.(?)

Saudi Arabia

[14]

VPS33B_00029

16

c.1208del

Het

p.(Leu403Cysfs*8)

Tahitian

[8]

VPS33B_00230

16i

c.1225 + 5G > C

Het

p.(?)

South American

[14]

VPS33B_00033

17

c.1235_1236delCCinsG

Hom

p.(Pro412Argfs*7)

Polish

[7]

VPS33B_00229

17

c.1261_1262del

Het

p.(Gln421Valfs*8)

South American

[14]

VPS33B_00008

18

c.1312C > T

Hom

p.(Arg438*)

Pakistani

[3]

VPS33B_00008

18

c.1312C > T

Het

p.(Arg438*)

Saudi Arabia

[15]

VPS33B_00008

18

c.1312C > T

Het

p.(Arg438*)

Pakistani

[14]

VPS33B_00219

18i

c.1406-2A > G

Hom

p.(?)

Saudi Arabia

[3]

VPS33B_00220

18i

c.1406-1G > C

Hom

p.(?)

Turkish

[8]

VPS33B_00228

20

c.1498G > T

Hom

p.(Glu500*)

Hispanic

[14]

VPS33B_00030

20

c.1509dupG

Het

p.(Lys504Glufs*23)

Korean

[7],[21]

VPS33B_00009

20

c.1519C > T

Het/Hom

p.(Arg507*)

Portuguese

[3],[18]

VPS33B_00218

20

c.1519C > T

Het

p.(Arg507*)

Korean

[21]

VPS33B_00031

20

c.1576_1577insT

Hom

p.(Glu526Valfs*13)

Polish

[7]

VPS33B_00010

21

c.1594C > T

Hom

p.(Arg532*)

Pakistani

[3]

VPS33B_00234

21i

c.1657 + 1G > A

Hom

p.(?)

Italian

[14]

VPS33B_00032

23

c.1803dupA

Het

p.(Val602Serfs*13)

Korean

[7]

  1. Del, deletion; Fs, frameshift; i, intron; , stop; , whole exon deletion; Het, heterozygous; Hom, homozygous.
  2. p.(?), effect of the variant on the protein is unknown.
  3. p.(0?), no protein product is predicted.