WRN mutations map

Werner syndrome (OMIM catalog # 277700) is an autosomal recessive human genetic instability syndrome whose phenotype mimics premature aging - patients appear to age rapidly after puberty, and are at increased risk of developing clinically important, age-dependent diseases such as cancer, atherosclerotic cardiovascular disease, diabetes mellitus and osteoporosis.

This website is a locus-specific mutational database (LSMD) developed in conjunction with the Human Genome Organization (HUGO) and the Human Genome Variation Society (HGVS). The Figure above summarizes WRN mutations found in Werner syndrome patients, from two major sources (indicated by open and closed symbols), and indicates the position of these mutations and SNP's (asterisks) in the WRN open reading frame and mRNA. Additional information on individual mutations and SNPs can be found by clicking on individual 'Mutation Numbers' in the first column of the Table below.

For information on clinical features and diagnosis of Werner syndrome and on molecular screening for WRN mutations in suspected Werner syndrome patients, please see the companion website of the International Registry of Werner Syndrome, selected References and the Werner Syndrome Gene Reviews entry for Werner syndrome.


Click on the Mutation Number of the mutation to access individual mutation records.

Mutation Number Mutation Consequence Exon Domain
062 c.95A>G p.K32R 3  
063 c.107G>A p.R36Q 3  
064 c.123delA p.E41fsX47 3  
001 c.171C>G p.Y57X 3  
065 c.340G>A
 p.V114I
 3  
002 c.356_366del11 p.S118fsX125 5 exonuclease
051 c.356-2A>C exon 5 skip 5 exonuclease
003 c.375A>T p.K125N 5 exonuclease
004 c.403A>G p.K135E 5 exonuclease
066 c.406G>A p.A136T 5 exonuclease
052 c.474delT p.F158fsX161 5 exonuclease
005 c.487_489delGATinsC p.T162fsX166 5 exonuclease
006 c.502_503delAA p.K167fsX177 5 exonuclease
007 c.655-1G>A
r.655_724del70 		p.Y218fsX227 7 exonuclease
008 c.867_874delAGAAAATC p.I288fsX301 9  
067 c.970A>G
 p.T324A
 9  
068 c.986A>G
 p.Q329R
 9  
069 c.1027G>A
 p.E343K
 9  
009 c.1105C>T p.R369X 9  
010 c.1123_1124delGAinsC p.F374fsX378 9  
070 c.1147G>T
 p.L383F
 9  
071 c.1161G>A
 p.M387I
 9  
011 c.1165delA p.E388fsX392 9  
012 c.1250_1253delTTGC p.D416fsX436 9  
013 c.1278_1279insATCT p.S246fsX430 10  
014 c.1389T>A p.Y463X 11  
015 c.1462G>T p.E488X 12  
016 c.1486A>T p.K496X 12  
017 c.1486_1489delAAAA p.L495fsX555 12  
072 c.1598A>G
 p.N533S
 13  
018 c.1674_1677delTTCA p.I557fsX560 14 helicase
019 c.1799_1800delCT p.1599fsX609 15 helicase
073 c.1835C>G
 p.S612C
 16 helicase
053 c.1909A>T p.R637>W 17 helicase
054 c.2003delAT (ms: AC) p.D668fsX674 18 helicase
020 c.2088_2089ins105 p.M696fsX709 18-19 helicase
021 c.2089_2825del p.M696fsX705 19-23 helicase
022 c.2102_2103delCA p.V700fsX30 19 helicase
023 c.2103_2104delAC p.V700fsX30 19 helicase
074 c.2123C>T
 p.S708F
 19 helicase
075 c.2131C>T
 p.R711W
 19 helicase
024 c.2179dupT p.T726fsX731 19 helicase
025 c.2194C>T p.R732X 19 helicase
026 c.2242C>T p.Q748X 19 helicase
055 c.2283G>A p.W761X 20 helicase
076 c.2342C>T
 p.T781I
 20 helicase
027 c.2448+1G>T
r.2274_2448del 		p.T757fsX760 IVS20 helicase
077 c.2500C>T
 p.R834C
 21 helicase
028 c.2581C>T p.Q861X 21 helicase
029 c.2665C>T p.R889X 22  
078 c.2735T>G
 p.I912S
 23  
030 c.2773delG p.K924fsX973 23  
031 c.2828-1G>C
r.2826_2967del142 		p.S941fsX975 IVS23 RQC
032 c.2884C>T p.Q962X 24 RQC
033 c.2959C>T p.R987X 24 RQC
034 c.3028_3031delCAAA p.D1009fsX1021 25 RQC
035 c.3030_3033delAACA p.D1009fsX1021 25 RQC
036 c.3033_3034delAG p.Q1010fsX1024 25 RQC
037 c.3034_3035delGA p.T1011fsX1024 25 RQC
038 c.3130dupA p.L1043fs1048 25 RQC
039 c.3139-1G>C
r.3139_3233del95 		p.K1046fs1060 IVS25  
079 c.3222G>T
 p.L1074F 26  
040 c.3233+1G>C
r.3139_3233del95 		p.K1046fs1060 IVS26  
041 c.3233+1G>T
r.3310_3383del74 		p.K1103fsX1139 IVS28  
080 c.3236C>T
 p.S1079L
    
056 c.3244_3245delGT p.V1082fsX1091 28  
058 c.3319G>T p.E1107X    
081 c.3397T>G
 p.S1133A
 29  
042 c.3446delA p.Q1148fsX1161 29  
043 c.3460-7T>A p.Q1153fsX1163 IVS29  
044 c.3460-2A>G p.Q1153fsX1158 IVS29 HRDC
045 c.3493C>T p.Q1165X 30 HRDC
057 c.3496A>T p.K1166X 30 HRDC
046 c.3572+2T>A
r.3460_3572del113 		p.Q1153fsX1158 IVS30 HRDC
047 c.3587delA p.V1195fsX1198 31 HRDC
082 c.3665T>G
 p.F1222C
 31 HRDC
048 c.3688_3691delACAG p.Q1229fsX1246 IVS31/32  
059 c.3690_3693delAGAC p.T1230fsX1246 32  
060 c.3789C>G p.Y1263X (ms:W) 32  
049 c.3913C>T p.R1305X 33  
050 c.3915dupA p.R1305fsX1318 33  
061 c.3961C>T R1321X 33  
083
c.4015G>A
 p.V1339I
 34  
084 c.4099T>C
 p.C1367R
 35  
085 c.4216C>T
 p.R1406X
 36