Table 2 Currently reported DDX11 variants in WABS patients.

From: Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

  

Variant 1

Variant 2

  

DNA

Protein

DNA

Protein

v.d. Lelij et al.1

WABS01

c.2271+2T>C

p.C754P fs*9

c.2689-2691del

p.K897del

Capo-Chichi et al.6

3 patients

c.788G>A

p.R263Q

c.788G>A

p.R263Q

Bailey et al.5

1 patient

c.638+1G>A

splice site

c.1888delC

p.R630F fs*23

Eppley et al.7

2 patients

c.1523T>G

p.L508R

c.1949-1G>A

splice site

Alkhunazi et al.4

Patient 1

c.606delC

p.Y202*

c.2372G>A

p.R791Q

 

Patient 2

c.1133G>C

p.R378P

c.1133G>C

p.R378P

 

Patient 3+4

c.2576T>G

p.V859G

c.2576T>G

p.V859G

 

Patient 5

c.2638dupG

p.A880G fs*94

c.2638dupG

p.A880G fs*94

Bottega et al.8

2 patients

c.2507T>C

p.L836P

c.907-920del

p.K303E fs*22

Rabin et al.9

2 patients

c.1763-1G>C

splice site

c.1763-1G>C

splice site

Present study

WABS02

c.169G>C

p.G57R

c.2692-1G>A

p.K897_F898ins25

 

WABS03

c.1403dupT

p.S469V fs*31

c.419G>A

p.R140Q

 

WABS04

c.1930G>A

p.V644M

c.2114G>A

p.C705Y

 

WABS05+WABS06

c.2571C>A

p.S857R

c.1672C>T

p.R558*

 

WABS07+WABS08

c.1946-1948del

p.G650del

c.1763-1G>C

p.G588A fs*6

  1. Note that the pathogenicity of variant c.419G>A (p.R140Q) in patient WABS03 is uncertain.
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