Clickable Map Tabular Listing Polymorphisms Exons
 

WS associated mutations

Click on map for detail information of mutation and protein domains

 

Spectrum of WS-associated WRN mutations. The thin horizontal line represents untranslated 5' and 3' portions of the WRN mRNA. Potential functional domains in the translated portion of the mRNA (central boxed region) identified by sequence (sa) or biochemical analyses (ba) are indicated by shaded or filled segments. These domains include the 3'-5' exonuclease domain (sa,ba); the DEAH helicase consensus domain, consisting of seven conserved regions found in both RNA and DNA helicases (sa,ba); RQC, the RecQ helicase conserved region of unknown function found in many RecQ family helicases (sa); HRDC , the Helicase, RNAseD, C-terminal conserved region of unknown function found in several helicase and RNAse proteins (sa); and NLS, a Nuclear Localization Signal (sa,ba). The positions of polymorphisms within the coding region are indicated by asterisks (*). An amino acid scale is given above the box and a nucleotide scale is given below. The positions of mutations in the WRN open reading frame and their consequences are indicated below the protein by symbols. The horizontal line indicates the position of the large deletion that eliminates exons 19-23. The key at the lower left (box) indicates the type of mutation and whether it leads to direct termination (open circle or "TER"), a frameshift with premature termination (open triangle or "FS/TER"), or a splicing error with the generation of a frameshift and termination (filled symbol or "Splice FS/TER").

Tabular listing of mutations

HGMD

OMIM

Mut. #

NWG

Mutation

Mutation Effect

CD972512

 

10

c.733-734delAA

2 bp deletion

FS, TER

CM961463

277700.0006

  6

c.1336C>T

transition

ARG369TER

CD962189

277700.0008

 

c.1396delA

1 bp deletion

FS, TER

CI962367

 

 

c.1509-1510insATCT

4 bp insertion

FS, TER

CM971590

 

  9

c.1620T>A

transversion

TYR463TER

No Acc. #

 

 

c.2320-3056del

>15 kb deletion

Exon 19-23 skip, FS, TER

No Acc. #

 

 

c.2319-2320ins105

unknown

FS, TER

 

 

 

c.2473C>T

transition

GLN748TER
CS971930

 

 

IVS20+1G>T

transversion

Exon 20 skip, FS, TER

CM961464

 

 

c.2896C>T

transition

ARG889TER

CD991940

 

 

c.3004delG

deletion

FS/TER

 

 

 

c.3259-3262delCAAA

deletion

FS/TER

 

 

 

c.3265-3266delGA

deletion

FS/TER
CS961715

277700.0004

  4

IVS25-1G>C

transversion

Exon 26 skip, FS, TER

CS991526

 

 

IVS26+1G>C

transversion

Exon 26 skip, FS, TER

CS961716

 

 

IVS28+1G>T

transversion

Exon 28 skip, FS, TER

CD962190

 

  7

c.3677delA

1 bp deletion

FS, TER
CS971931

 

  8

IVS29-7T>A

transversion

New splice site, FS, TER

CM961465

277700.0002

  2

c.3724C>T

transition

GLN1165TER

CS961717

277700.0007

 

IVS30+2T>A

transversion

Exon 30 skip, FS, TER

CD962191

277700.0003

  3

Complex

4 bp deletion

New splice site, FS, TER

CM961466

277700.0001

  1

c.4144C>T

transition

ARG1305TER

CI972726

277700.0005

  5

c.4146-4147insA

1 bp insertion

FS, TER

Polymorphisms in WRN

NWG Amino-acid Change Reference
c.744T>C CYS171CYS Castro, E., et al., 1999
c.1201A>G THR324ALA Castro, E., et al., 1999
c.1392G>A MET387ILE Meisslitzer, C., et al., 1997 , Vidal, V., et al. 1997
c.2592T>G LEU787LEU Castro, E., et al., 1999
c.2691T>G ALA820ALA Castro, E., et al., 1999
c.3453T>G PHE1074LEU Meisslitzer, C., et al., 1997
c.4314C>T SER1361SER Castro, E., et al., 1999
c.4330T>C CYS1367ARG Ye, L., et al., 1997 HGMD# CM971523