WRN Mutations




The Table below is a compilation of published mutational data on WRN mutations that have been identified in Werner syndrome patients. The different designations of individual mutations are cross-referenced, mutations and their consequences indicated, and original sources identified for each mutation.

For additional information on each mutation, please click on the NWG mutation designation, which will take you to a mutation-specific page that contains additional information.


New Working Group Mutation Designation* OMIM HGMD Japan # Nuc. Change AA Change Source
c.733-734delAA -- CD972512 10 del AA fs>TER 1
c.1336C>T -- CD961463 6 C>T ARG>TER 2
c.1396delA 277700.0006 CD962189 -- del A fs>TER 2,3
c.1509-1510insATCT 277700.0008 CI962367 -- ins ATCT fs>TER 2
c.1602T>A -- CM971590 9 T>A TYR>TER 1
c.2320-3056del -- No # -- >15kb del fs>TER 2,7
c.2319-2320ins105 -- No # -- -- Unknown 2
c.2473C>T -- -- -- C>T Gln>TER 2
IVS20+1G>T -- CS971930 -- -- fs>TER 4
c.2896C>T -- CM961464 -- C>T Arg>TER 2
c.3004delG -- CD991940 -- del G fs>TER 5
c.3259-3262delCAAA -- -- -- del CAAA fs>TER 6
3265-3266delGA -- -- -- del GA fs>TER 6
IVS25-G>C 277700.0004 CS961715 4 -- fs>TER 7
IVS26+1G>C -- CS991526 -- -- fs>TER 6
IVS28+1G>T -- CS961716 -- -- fs>TER 2
c.3677delA -- CD962190 7 del A fs>TER 1
IVS29-7T>A -- CS979131 8 -- fs>TER 1
c.3724C>T 277700.0002 CM961465 2 C>T Gln>TER 7
IVS30+2T>A -- CS961717 -- -- fs>TER 2,3
Complex 277700.0003 CD962191 3 -- fs>TER 2,7
c.4144C>T 277700.0001 CM961466 1 C>T Arg>TER 7
c.4146-4147insA 277700.0005 CI972726 5 ins A fs>TER 8
Record in Progress -- -- 20 -- -- 9


*NWG designations place each WRN mutation in a common descriptive format that is referenced to the human WRN open reading frame sequence, as recommended by the New Working Group on Human Gene Mutation Nomenclature (see Antonarakis, SE and the Nomenclature Working Group (1998). Recommendations for a nomenclature system for human gene mutations. Human Mutation 11:1-3).


Mutation Source References

1. Matsumoto, T., et al. Hum. Genet. 100:123-130 (1997)
2. Oshima,J., et al., Hum. Mol. Genet. 5:1909-1913, (1996)
3. Meisslitzer, C., et al., Eur. J. Hum. Genet. 5:364-370, (1997)
4. Yu, C. E., et al., Am. J. Hum. Genet. 60:330-341, (1997)
5. Bennet, S. E., et al. Cancer Res. 57(14):2956-2960 (1997)
6. Moser, M. J., et al. Cancer Res. 60:2492-6 (2000)
7. Yu, C. E., et al., Science 272:258-262, (1996)
8. Goto,M., et al., Hum. Genet. 99:191-193, (1997)
9. Nakamura, Y., et al, Rheumatology 42:798-800, (2003)