WRN Coding Region Polymorphisms




The Table below is a compilation of open reading frame polymorphisms that have been identified in the human WRN gene. These are indicated by position and have been cross-referenced in the form of links to the NCBI dbSNP Database, the University of Washington Genome Center and to published sources.


cDNA Position* dbSNP rs# UW Genome Center** Exon Amino Acid Nucleotide Change Amino Acid Change
c.270G>A -- -- 2 13 G>A Arg>Arg
c.273A>G rs3087420 wrn-e2+t55 2 14 A>G Lys>Lys
c.326A>G -- -- 2 32 A>G Lys>Arg
c.501T>C -- -- 4 90 T>C Asn>Asn
c.571G>A rs4987236 -- 4 114 G>A Val>Ile
c.678A>T -- -- 5 149 A>T Arg>Arg
c.744T>C rs2725349 wrn-e6+f9 6 171 T>C Cys>Cys
c.745A>C -- -- 6 172 A>C Thr>Pro
c.951T>G -- -- 7 240 T>G Asn>Lys
c.1201A>G rs1800390 -- 9 324 A>G Thr>Ala
c.1379T>G rs4987238 -- 9 383 T>G Leu>Trp
c.1386A>G rs2230010 -- 9 385 A>G Glu>Glu
c.1392G>A rs1800391 -- 9 387 G>A Met>Ile
c.2402A>T -- -- 19 724 A>T Gln>Leu
c.2592T>G rs1800392 wrn-e20+f88 20 787 T>G Leu>Leu
c.2691T>G rs1800393 -- 21 820 T>G Ala>Ala
c.2731C>T rs3087425 wrn-e21+f52 21 834 C>T Arg>Cys
c.2802T>C rs3087432 wrn-e21+t60 21 857 T>C Arg>Arg
c.3453T>G rs2725362 wrn-e26+t12 26 1074 T>G Phe>Leu
c.3467C>T rs3087414 wrn-e27+f3 27 1079 C>T Ser>Leu
c.4036A>G -- -- 32 1269 A>G Lys>Glu
c.4314C>T rs1801196 wrn-e34+f101 34 1361 C>T Ser>Ser
c.4330T>C rs1346044 wrn-e34+t93 34 1367 T>C Cys>Arg
c.4447C>T -- -- 35 1406 C>T Arg>Stop
c.4544A>G -- -- 35 After Stop Codon A>G ~

*The cDNA position is based on numbering from the start codon and is internally consistent with the UW Genome Center. The numbering starts with 1 at the A of the start codon. This position corresponds to nucleotide position 789 in the NCBI cDNA sequence. NM_000553

**This is a listing of the data that correlate with our exon variants. For the full listing go to the UW Genome Center listing

1. Castro, E., et al. AM J Med Genet. 82:399-403 (1999)
2. Castro, E., et al. AM J Med Genet. 95:374-380 (2000)
3. Passarino, G., et al. Genomics. 71:118-122 (2001)
4. University of Washington Genome Center