Nomenclature changed (HGVS) see reference sequence for details. See legend at the bottom of the page.
LOVD - Variant listings for MUTYH

About this overview [Show]

308 entries
entries per page

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

Protein Hide Protein column Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Variant reference Hide Variant reference column Descending
Ascending

DNA_reported Hide DNA_reported column Descending
Ascending

Protein_reported Hide Protein_reported column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

Type Hide Type column Descending
Ascending

Cons_predicted Hide Cons_predicted column Descending
Ascending

Variant remarks Hide Variant remarks column Descending
Ascending

Origin Hide Origin column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

Detection/Template Hide Detection/Template column Descending
Ascending

Detection/Technique Hide Detection/Technique column Descending
Ascending

Method Hide Method column Descending
Ascending

Protein_test/Method Hide Protein_test/Method column Descending
Ascending

Protein_test/Result Hide Protein_test/Result column Descending
Ascending

Protein_test/Type Hide Protein_test/Type column Descending
Ascending

Protein_data Hide Protein_data column Descending
Ascending

Protein_location Hide Protein_location column Descending
Ascending
00 c.-216-3949T>C
  (Reported 13 times)
p.(=) r.(=) Agalliu et al., 2009 - - MUTYH_00039 substitution, base pair - NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G - 625/2520=24.8% DNA leukocyte Allelic discrimination test known variant (group) - - - - -
00 c.-216-2721C>T
  (Reported 7 times)
p.(=) r.(=) Schafmayer et al., 2007 NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_00288 substitution, base pair - NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His Germline 93/2132 (4.4%) DNA, leukocyte Allelic discrimination Test known variant (group) - - - - -
00 c.-216-290G>A p.(=) r.(=) dbSNP-rs3219463 NG_008189.1:g.4711G>A; NM_025077.3:c.53-313C>T (TOE1 gene) - MUTYH_00244 substitution, base pair - - - 0.227-0.475 A DNA SEQ - - - - - -
00 c.-216-64G>A
  (Reported 2 times)
p.(=) r.(=) Tao et al., 2008 c.-280G>A - MUTYH_00163 substitution, base pair - Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. - - DNA PCR - - - - - -
00 c.-216-58G>A p.(=) r.(=) dbSNP-rs3219465 - - MUTYH_00228 substitution, base pair - - - - DNA SEQ - - - - - -
00 c.-177C>T p.(=) r.(=) Clinical Genetics, LUMC, Leiden, NL - - MUTYH_00001 substitution, base pair - - Germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
00 c.-165C>T p.(=) r.(=) Peterlongo et al., 2006 - - MUTYH_00083 substitution, base pair - Frequency in 62 probands New York, 13 Milan, 5 Madrid - 1/160 alleles DNA, leukocyte SEQ (ex1-16) screen MUTYH gene (index) - - - - -
00 c.-127C>A p.(=) r.(=) dbSNP-rs3219466 - - MUTYH_00227 substitution, base pair - - - - DNA SEQ - - - - - -
00 c.-127C>T
  (Reported 17 times)
p.(=) r.(=) http://egp.gs.washington.edu/data/mutyh/ - - MUTYH_00002 substitution, base pair - - - 0.02 DNA SEQ - - - - - -
00 c.-83G>A p.(=) r.(=) dbSNP-rs28372898 - - MUTYH_00229 substitution, base pair - - - - DNA SEQ - - - - - -
00 c.-56G>C p.(=) r.(=) Gómez-Fernández et al., 2009 - - MUTYH_00011 substitution, base pair - new in this paper; not in 500 control chromosomes ? - DNA, leukocyte SEQ, SSCP or Taqman 4 variants screen MUTYH gene (index) - - - - -
01 c.8C>T p.(Pro3Leu) r.(=) MGZ, München, DE - - MUTYH_00178 substitution, base pair - - - - DNA SEQ - - - - - -
01 c.20G>A p.(Arg7His) r.(20g>a) Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK c.20G>A p.(Arg7His) MUTYH_00256 substitution, base pair missense - - - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
01i c.36+1G>A
  (Reported 2 times)
p.? r.(1_36del); r.(spl?) Redeker (unpublished); AMC, Amsterdam, NL - - MUTYH_00224 substitution, base pair splice mutation Alamut: affects donor splice site intron 1; skip exon 1 very likely; first ATG of alpha transcript in exon 1; two alternative ATG codons in exon 2 (beta + gamma transcripts) and 4 (beta4 + gamma4); effect on alpha transript difficult to predict. ? (unknown) - DNA SEQ - - - - - -
01i c.36+11C>T
  (Reported 6 times)
p.(=) r.(=) Clinical Genetics, LUMC, Leiden, NL - - MUTYH_00003 substitution, base pair - - Germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
01i c.36+54G>A p.(=) r.(=) dbSNP-rs17838009 - - MUTYH_00230 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.36+75C>G
  (Reported 2 times)
p.(=) r.(=) Clinical Genetics, LUMC, Leiden, NL - - MUTYH_00020 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.36+267C>T p.(=) r.(=) Goto et al., 2008 - - MUTYH_00200 substitution, base pair - Beta transcript: NM_001048174.1:c.-60C>T (ex1) ; Gamma: NM_001048173.1:c.-7+24C>T (IVS1+24C>T); not on putative TF binding seq (www.genomatix.de/matinspector.html). Contains GAGA box seq in opposite orientation; 301 bp upstream of initiation codon TOE1 - 1/46 alleles DNA, FFPE, non-cancerous gastric mucosa SEQ (ex1-16) Screen MUTYH gene (index) - - - - -
01i c.36+325 G>C - - Plotz et al., 2012 - - MUTYH_00324 - - The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA germline 1/54 controls DNA-l SEQ, TaqMan SEQ-germline, TaqMan-RNA quantification - - - - -
01i c.36+325G>C
  (Reported 13 times)
p.(spl?) r.(spl?) Kambara et al., 2004 IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_00004 substitution, base pair splice mutation - - - DNA RFLP, SEQ - - - - - -
01i c.36+478C>G p.(=) r.(=) dbSNP-rs3219469 - - MUTYH_00231 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.36+721C>T p.(=) r.(=) dbSNP-rs3219470 - - MUTYH_00232 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.36+830G>A p.(=) r.(=) dbSNP-rs1140199 - - MUTYH_00233 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.36+845G>C p.(=) r.(=) dbSNP-rs6696152 - - MUTYH_00234 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.36+847T>C p.(=) r.(=) dbSNP-rs1140200 - - MUTYH_00235 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.36+852A>G p.(=) r.(=) dbSNP-rs1140201 - - MUTYH_00236 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.36+991_36+992insA p.(=) r.(=) dbSNP-rs60609540 - - MUTYH_00237 insertion, small - - - - DNA SEQ - - - - - -
01i c.36+1464_36+1465del p.(=) r.(=) dbSNP-rs71667141 - - MUTYH_00291 deletion, small - - - - DNA SEQ - - - - - -
01i c.36+1466_36+1467insAC p.(=) r.(=) dbSNP-rs35518179 - - MUTYH_00292 insertion, small - - - - DNA SEQ - - - - - -
01i c.36+1467_36+1468insAC p.(=) r.(=) dbSNP-rs10638672 - - MUTYH_00293 insertion, small - - - - DNA SEQ - - - - - -
01i c.36+1474dup
  (Reported 2 times)
p.(=) r.(=) dbSNP-rs63261960 c.36+1473_36+1474insA - MUTYH_00290 duplication, small - - - - DNA SEQ - - - - - -
01i c.36+1841G>A
  (Reported 2 times)
p.(=) r.(=) Yamaguchi et al., 2002 IVS1+1520 A/G (beta transcript); NM_001048174.1: c.-7+1521G>A (beta transcript) - MUTYH_00164 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.36+1563dup p.(=) r.(=) dbSNP-rs34686049 c.36+1561_36+1562insG - MUTYH_00294 duplication, small - - - - DNA SEQ - - - - - -
01i c.36+1802G>A p.(=) r.(=) dbSNP-rs3219471 - - MUTYH_00295 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.36+1945C>T p.(=) r.(=) dbSNP-rs3219473 - - MUTYH_00297 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.36+1946dup p.(=) r.(=) dbSNP-rs35804643 c.36+1943_36+1944insC - MUTYH_00296 duplication, small - - - - DNA SEQ - - - - - -
01i c.36+2351C>T p.(=) r.(=) dbSNP-rs7522089 - - MUTYH_00298 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.36+2478T>C p.(=) r.(=) dbSNP-rs3219474 - - MUTYH_00299 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.36+2774G>A p.(=) r.(=) dbSNP-rs3219475 - - MUTYH_00300 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.37-2653C>A p.(=) r.(=) dbSNP-rs61789858 - - MUTYH_00301 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.37-2487T>G p.(=) r.(=) dbSNP-rs3219476 - - MUTYH_00245 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.37-1960G>C
  (Reported 2 times)
p.(=) r.(=) Yamaguchi et al., 2002 IVS1+3427 C/G (beta transcript); NM_001048174.1: c.-6-1960G>C (beta transcript) - MUTYH_00165 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.37-2139T>C p.(=) r.(=) dbSNP-rs3219477 - - MUTYH_00302 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.37-2002T>C p.(=) r.(=) dbSNP-rs3219478 - - MUTYH_00303 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.37-1798G>A p.(=) r.(=) dbSNP-rs3219480 - - MUTYH_00304 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.37-1747T>C p.(=) r.(=) dbSNP-rs28871870 - - MUTYH_00305 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.37-1192T>G p.(=) r.(=) dbSNP-rs7550250 - - MUTYH_00306 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.37-1074C>T p.(=) r.(=) dbSNP-rs3219481 - - MUTYH_00307 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.37-1040A>G p.(=) r.(=) dbSNP-rs3219482 - - MUTYH_00308 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.37-1015A>G p.(=) r.(=) dbSNP-rs3219483 - - MUTYH_00309 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.37-89dup p.(=) r.(=) dbSNP-rs35203418 c.37-91_37-90insG - MUTYH_00310 duplication, small - - - - DNA SEQ - - - - - -
01i c.37-19C>G p.(=) r.(=) Olschwang et al., 2007 - - MUTYH_00087 substitution, base pair - - - - DNA SEQ - - - - - -
02 c.39C>T p.(=); p.(Ala13Ala) r.(39c>u) Gómez-Fernández et al., 2009 - - MUTYH_00023 substitution, base pair silent new in this paper; not in 500 control chromosomes ? - DNA, leukocyte SEQ, SSCP or Taqman 4 variants screen MUTYH gene (index) - - - - -
02 c.42C>T
  (Reported 2 times)
p.(=); p.(Ile14Ile) r.(42c>u) Aretz et al., 2006 - - MUTYH_00262 substitution, base pair silent - Germline 1/658 DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
02 c.49A>T p.(Lys17X) r.(49a>u) MGZ, München, DE - - MUTYH_00179 substitution, base pair nonsense - - - DNA SEQ - - - - - -
02 c.53C>T
  (Reported 14 times)
p.(Pro18Leu) r.(53c>u) Shinmura et al., 2001 - - MUTYH_00024 substitution, base pair missense In N-terminal mitochondrial targeting signal (Shinmura 2001) - - DNA SSCP, SEQ - - - - - -
02 c.55C>T p.(Arg19X) r.(55c>u) Vogt et al., 2009 - - MUTYH_00205 substitution, base pair nonsense - Germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
02 c.56G>A p.(Arg19Gln) r.(56g>a) Clinical Genetics, LUMC, Leiden, NL - - MUTYH_00153 substitution, base pair missense - Germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
02 c.62C>T p.(Ala21Val) r.(62c>u) Olschwang et al., 2007 - - MUTYH_00146 substitution, base pair missense - - - DNA SEQ - - - - - -
02 c.64G>A
  (Reported 71 times)
p.(Val22Met) r.(64g>a) Görgens et al., 2006 - - MUTYH_00005 substitution, base pair missense - - - DNA SEQ - - - - - -
02 c.74G>A
  (Reported 14 times)
p.(Gly25Asp) r.(74g>a) Shinmura et al., 2001 - - MUTYH_00026 substitution, base pair missense In N-terminal mitochondrial targeting signal (Shinmura 2001) - - DNA SSCP (coding, flanking), SEQ - - - - - -
02 c.91del
  (Reported 2 times)
p.(Ala31ProfsX27) r.(91del) Clinical Genetics, LUMC, Leiden, NL - p.(Ala31ProfsX46) MUTYH_00116 deletion, small frameshift - Germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
02 c.98A>C p.(Gln33Pro) r.(98a>c) Molecular Oncology, CRCM-UMR, Marseille, FR - - MUTYH_00264 substitution, base pair missense - - - DNA SEQ - - - - - -
02i c.156+5G>C p.? r.(spl?) - c.156+5G>C p.? MUTYH_00318 substitution, base pair - - - - DNA SEQ - - - - - -
02i c.157+30A>G
  (Reported 13 times)
p.(=) r.(=) Görgens et al., 2006 - - MUTYH_00006 substitution, base pair - - - - DNA SEQ - - - - - -
02i c.157+75G>A
  (Reported 4 times)
p.(=) r.(=) Out et al., 2009 - - MUTYH_00154 substitution, base pair - - Germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
02i c.157+136G>A p.(=) r.(=) Out et al., 2009 - - MUTYH_00156 substitution, base pair - - Germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
02i c.157+151G>A
  (Reported 3 times)
p.(=) r.(=) Out et al., 2009 - - MUTYH_00155 substitution, base pair - - Germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
03 c.158C>G p.(Ala53Gly) r.(158c>g) Molecular Oncology, CRCM-UMR, Marseille, FR c.158-42C>G p.(?) MUTYH_00265 substitution, base pair missense Intronic in NM_001048171.1 (alpha3); first nucleotide of exon3 in NM_001128425.1 (alpha5); In silico ESE site change and splice acceptor site change (Alamut) - - DNA SEQ - - - - - -
03 c.224T>A
  (Reported 2 times)
p.(Val75Glu) r.(224u>a) Halford et al., 2003 c.182T>A p.(Val61Glu) MUTYH_00028 substitution, base pair missense - - - DNA SEQ - - - - - -
03 c.241_242del
  (Reported 2 times)
p.(Val81LeufsX11) r.(241_242del) Venesio et al., 2004 c.199_200del p.(Val67LeufsX11) MUTYH_00027 deletion, small frameshift - - - DNA ? - - - - - -
03 c.252C>T p.(=); p.(Tyr84Tyr) r.(252c>u) Al-Tassan et al., 2003 c.210C>T p.(Tyr70Tyr) MUTYH_00282 substitution, base pair Silent Alamut: putative strong splice acceptor site after c.263 slightly stronger germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
03 c.289C>T
  (Reported 8 times)
p.(Arg97X) r.(289c>u) Sieber et al., 2003 c.247C>T p.(Arg83X) MUTYH_00029 substitution, base pair nonsense - - - DNA SSCA, SEQ - - - - - -
03 c.290G>A p.(Arg97Gln) r.(290g>a) Molecular Oncology, CRCM-UMR, Marseille, FR c.248G>A p.(Arg83Gln) MUTYH_00266 substitution, base pair missense - - - DNA SEQ - - - - - -
03 c.294del
  (Reported 3 times)
p.(Ser99AlafsX3) r.(294del) Sieber et al., 2003; Russell et al., 2006 c.252delG p.(Ser85AlafsX3); p.G84fs MUTYH_00030 deletion, small frameshift - - - DNA, leukocyte DHPLC, SEQ Screen MUTYH gene (index) - - - - -
03 c.307T>C
  (Reported 3 times)
p.(Trp103Arg) r.(307u>c) MGZ, München, DE c.265T>C p.(Trp89Arg) MUTYH_00181 substitution, base pair missense - - - DNA SEQ - - - - - -
03 c.309G>A p.(Trp103X) r.(309g>a) Kairupan et al., 2005 c.267G>A; G267A p.(Trp89X); W98X MUTYH_00060 substitution, base pair nonsense - - - DNA, leukocytes Pyrosequencing, SEQ screen MUTYH gene (index) - - - - -
03 c.311A>G p.(Tyr104Cys) r.(311a>g) Gómez-Fernández et al., 2009 c.269A>G p.(Tyr90Cys) MUTYH_00025 substitution, base pair missense new in this paper; Polyphen: possibly damaging; not in 500 control chromosomes sporadic - DNA, leukocyte SSCP, Taqman 4 variants screen MUTYH gene (index) - - - - -
03 c.312C>A
  (Reported 20 times)
p.(Tyr104X) r.(312c>a) Dolwani et al., 2007 c.270C>A p.(Tyr90X) MUTYH_00032 substitution, base pair nonsense - - - DNA PCRdig, SEQ - - - - - -
03 c.312C>T
  (Reported 5 times)
p.(=); p.(Tyr104Tyr) r.(312c>u) Alhopuro et al., 2005 c.270C>T - MUTYH_00031 substitution, base pair silent - - - DNA SEQ - - - - - -
03 c.313G>A
  (Reported 2 times)
p.(Asp105Asn) r.(313g>a) Nielsen et al., 2005 c.271G>A p.(Asp91Asn) MUTYH_00007 substitution, base pair missense - Germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
03 c.325C>T
  (Reported 3 times)
p.(Arg109Trp) r.(325c>u) Vogt et al., 2009;Nielsen et al., 2009b;Nielsen et al., 2009b c.283C>T p.(Arg95Trp) MUTYH_00008 substitution, base pair missense - Germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
03i c.348+10C>T
  (Reported 4 times)
p.Ala117ValfsX32 r.348_349insGTAGGCAG Institute of Human Genetics, Bonn, Germany c.306+10C>T p.Ala103ValfsX32 MUTYH_00321 substitution, base pair splice mutation - - - DNA-l, RNA PAGE, RT-PCR, SEQ - - - - - -
03i c.348+11G>A p.(=) r.(=) Shinmura et al., 2001 c.306+11G>A - MUTYH_00108 substitution, base pair - - - - DNA SSCP, SEQ - - - - - -
4-16 c.348+33_*64+146del4285insTA
  (Reported 3 times)
- - Torrezan et al.,2011 - - MUTYH_00323 deletion, large deletion, large - - - DNA-l SEQ screen MUTYH gene - - - - -
04 c.366C>T p.(=); p.(Asp122Asp) r.(366c>u) Olschwang et al., 2007 c.324C>T - MUTYH_00124 substitution, base pair silent - - - DNA SEQ - - - - - -
04 c.376C>T p.(Arg126Trp) r.(376c>u) Olschwang et al., 2007 c.334C>T p.(Arg112Trp) MUTYH_00125 substitution, base pair missense - - - DNA SEQ - - - - - -
04 c.379G>A p.(Ala127Thr) r.(379g>a) Molecular Medicine, AUH, Skejby, Aarhus, DK c.337G>A p.(Ala113Thr) MUTYH_00240 substitution, base pair missense - - 1/230 DNA-l SEQ - - - - - -
04 c.382T>C
  (Reported 2 times)
p.(Tyr128His) r.(382u>c) Isidro et al., 2004 c.340T>C p.(Tyr114His) MUTYH_00033 substitution, base pair missense - - - DNA ? - - - - - -
04i c.388+43C>T p.(=) r.(=) Molecular Oncology, CRCM-UMR, Marseille, FR c.346+43C>T - MUTYH_00267 substitution, base pair - - - - DNA SEQ - - - - - -
04i c.388+55G>A p.(=) r.(=) Olschwang et al., 2007 c.346+55G>A - MUTYH_00126 substitution, base pair - - - - DNA SEQ - - - - - -
04i c.388+56G>A
  (Reported 4 times)
p.(=) r.(=) Küry et al., 2007 c.346+56G>A - MUTYH_00009 substitution, base pair - - - - DNA SEQ - - - - - -
04i c.389-46G>A p.(=) r.(=) Aretz et al., 2006 c.347–46G>A - MUTYH_00259 substitution, base pair - - Germline 1/658 DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
04i c.389-1G>A
  (Reported 4 times)
p.(Val130GlufsX98); p.(spl?) r.(389_462del); r.(spl?) Sampson et al., 2003 c.347-1G>A p.(Val116GlufsX98) MUTYH_00110 substitution, base pair splice mutation Alamut: acceptor splice site of intron 4 affected; skip of exon 5 very likely (or retaining of intron 4 also possible? r.([388_389ins388+1_389-1;389-1g>a]), p.(Val130GlyfsX6)) - - DNA ? - - - - - -
04i c.389-1G>C
  (Reported 2 times)
p.(Val130GlufsX98); p.(spl?) r.(389_462del); r.(spl?) Olschwang et al., 2007 c.347-1G>C - MUTYH_00127 substitution, base pair splice mutation Alamut: acceptor splice site of intron 4 affected; skip of exon 5 very likely (or retaining of intron 4 also possible? r.([388_389ins388+1_389-1;389-1g>a]), p.(Val130GlyfsX6)) - - DNA SEQ - - - - - -
04i c.389–20T>C p.(=) r.(=) Al-Tassan et al., 2003 c.347–20T>C - MUTYH_00283 substitution, base pair - - germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
05 c.391T>A
  (Reported 2 times)
p.(Trp131Arg) r.(391u>a) Sampson et al., 2003 c.349T>A p.(Trp117Arg) MUTYH_00034 substitution, base pair missense - - - DNA ? - - - - - -
05 c.412C>T p.(Gln138X) r.(412c>u) Molecular Oncology, CRCM-UMR, Marseille, FR c.370C>T p.Gln124X MUTYH_00268 substitution, base pair nonsense - - - DNA SEQ - - - - - -
05 c.421del
  (Reported 3 times)
p.(Gln141ArgfsX5) r.(421del) Ponti et al., 2005; Ponti et al., 2007 c.379delC p.(Gln127ArgfsX5) MUTYH_00061 deletion, small frameshift protein should lack C-terminal domain - - DNA, leukocyte SEQ (ex1-16) screen MUTYH gene (index) - - - - -
05 c.450C>T p.(=); p.(Thr150Thr) r.(450c>u) Aretz et al., 2006 c.408C>T p.(Thr136Thr) MUTYH_00260 substitution, base pair silent - Germline 1/658 DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
1 - 100
[<-] 1 2 3 4 [->]


Legend: [ MUTYH full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: Exon DNA change: DNA change Protein: Protein change RNA change: RNA change Variant reference: Variant reference DNA_reported: DNA_reported Protein_reported: Protein_reported MUTYH DB-ID: DB-ID Type: Type Cons_predicted: Consequence_predicted Variant remarks: Variant remarks Origin: Origin Frequency: Frequency Detection/Template: Detection/Template Detection/Technique: Detection/Technique Method: Method Protein_test/Method: Protein_test/Method Protein_test/Result: Protein_test/Result Protein_test/Type: Protein_test/Type Protein_data: Protein_data Protein_location: Protein_location