Full data view for gene MUTYH

Information The variants shown are described using the transcript reference sequence.

2352 entries on 24 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Consequence_Predicted     

ID     

InSiGHT Class     

Protein/Domain     

Splicing/transcript expression     

Allele     

DNA change (genomic) (hg19)     

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Reference     

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Frequency     

Variant remarks     

Genetic origin     

Segregation     

Date     

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Technique     

Tissue     

Method     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Family History     

Pedigree information available     

Selection criteria for proband testing     

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Owner     
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - Unknown g.45810091A>G - Agalliu 2009 MUTYH_000039 625/2520=24.8% 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 Unknown - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate Agalliu 2009 M United States white 455/1260 (36.1%) heterozygotes among Caucasian prostate cancer patients (85 homozygotes) - - - 455 Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - Parent #1 g.45810091A>G - Agalliu 2009 MUTYH_000039 625/2520=24.8% 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 Unknown - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate Agalliu 2009 M United States white 85/1260 (6.8%) homozygotes among Caucasian prostate cancer patients (455 heterozygotes) - - - 85 Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - Parent #2 g.45810091A>G - Agalliu 2009 MUTYH_000039 625/2520=24.8% 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 Unknown - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate Agalliu 2009 M United States white 85/1260 (6.8%) homozygotes among Caucasian prostate cancer patients (455 heterozygotes) - - - 85 Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - Unknown g.45810091A>G - Agalliu 2009 MUTYH_000039 151/290=52.1% 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 Unknown - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate Agalliu 2009 M United States African-American 71/145 (49.0%) heterozygotes among African-American prostate cancer patients (40 homozygotes) - - - 71 Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - Parent #1 g.45810091A>G - Agalliu 2009 MUTYH_000039 151/290=52.1% 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 Unknown - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate Agalliu 2009 M United States African-American 40/145 (27.6%) homozygotes among African-American prostate cancer patients (71 heterozygotes) - - - 40 Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - Parent #2 g.45810091A>G - Agalliu 2009 MUTYH_000039 151/290=52.1% 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 Unknown - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate Agalliu 2009 M United States African-American 40/145 (27.6%) homozygotes among African-American prostate cancer patients (71 heterozygotes) - - - 40 Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - Unknown g.45810091A>G - Agalliu 2009 MUTYH_000039 637/2494=25.5% 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 Unknown - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? Agalliu 2009 M United States white 485/1247 (38.9%) heterozygotes among Caucasian controls (76 homozygotes) - - - 485 Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - Parent #1 g.45810091A>G - Agalliu 2009 MUTYH_000039 637/2494=25.5% 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 Unknown - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? Agalliu 2009 M United States white 76/1247 (6.1%) homozygotes among Caucasian controls (485 heterozygotes) - - - 76 Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - Parent #2 g.45810091A>G - Agalliu 2009 MUTYH_000039 637/2494=25.5% 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 Unknown - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? Agalliu 2009 M United States white 76/1247 (6.1%) homozygotes among Caucasian controls (485 heterozygotes) - - - 76 Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - Unknown g.45810091A>G - Agalliu 2009 MUTYH_000039 78/158=49.4% 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 Unknown - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? Agalliu 2009 M United States African-American 32/79 (40.5%) heterozygotes among African-American controls (23 homozygotes) - - - 32 Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - Parent #1 g.45810091A>G - Agalliu 2009 MUTYH_000039 78/158=49.4% 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 Unknown - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? Agalliu 2009 M United States African-American 23/79 (29.1%) homozygotes among African-American controls (32 heterozygotes) - - - 23 Astrid Out
?/? _1 c.-216-3949T>C r.(=) p.(=) - - - - - Parent #2 g.45810091A>G - Agalliu 2009 MUTYH_000039 78/158=49.4% 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 Unknown - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? Agalliu 2009 M United States African-American 23/79 (29.1%) homozygotes among African-American controls (32 heterozygotes) - - - 23 Astrid Out
?/? _1 c.-216-2721C>T r.(=) p.(=) - - - - - Unknown g.45808863G>A NT_032977.9:g.15780781G>A; rs9429157 Schafmayer 2007 MUTYH_000288 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous 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 (inherited) - - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC Schafmayer 2007 - Germany - - - - - 91 Astrid Out
?/? _1 c.-216-2721C>T r.(=) p.(=) - - - - - Parent #1 g.45808863G>A NT_032977.9:g.15780781G>A; rs9429157 Schafmayer 2007 MUTYH_000288 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous 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 (inherited) - - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC Schafmayer 2007 - Germany - - - - - 1 Astrid Out
?/? _1 c.-216-2721C>T r.(=) p.(=) - - - - - Parent #2 g.45808863G>A NT_032977.9:g.15780781G>A; rs9429157 Schafmayer 2007 MUTYH_000288 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous 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 (inherited) - - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC Schafmayer 2007 - Germany - - - - - 1 Astrid Out
?/? _1 c.-216-2721C>T r.(=) p.(=) - - - - - Unknown g.45808863G>A NT_032977.9:g.15780781G>A; rs9429157 Schafmayer 2007 MUTYH_000288 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous 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 (inherited) - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? Schafmayer 2007 - Germany - - - - - 62 Astrid Out
?/? _1 c.-216-2721C>T r.(=) p.(=) - - - - - Parent #2 g.45808863G>A NT_032977.9:g.15780781G>A Schafmayer 2007 MUTYH_000288 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous 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 (inherited) - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? Schafmayer 2007 - Germany - - - - - 3 Astrid Out
?/? _1 c.-216-2721C>T r.(=) p.(=) - - - - - Parent #1 g.45808863G>A NT_032977.9:g.15780781G>A; rs9429157 Schafmayer 2007 MUTYH_000288 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous 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 (inherited) - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? Schafmayer 2007 - Germany - - - - - 3 Astrid Out
?/? _1 c.-216-290G>A r.(=) p.(=) - - - - - Unknown g.45806432C>T - - MUTYH_000244 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? _1 c.-216-64G>A r.(=) p.(=) - - - - - Unknown g.45806206C>T -280G>A Tao 2008 MUTYH_000163 - Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. Unknown - - DNA PCR - - CRC Tao 2008 - Japan - 78 (11.4%) heterozygote or homozygote among 685 CRC patients; Haplotype 5.8% - - - 78 Astrid Out
?/? _1 c.-216-64G>A r.(=) p.(=) - - - - - Unknown g.45806206C>T -280G>A Tao 2008 MUTYH_000163 - Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. Unknown - - DNA PCR - - ? Tao 2008 - Japan - 64 (8.2%) heterozygote or homozygote among 778 control subjects; Haplotype 4.0% - - - 64 Astrid Out
?/? _1 c.-177C>T r.(=) p.(=) - - - - - Parent #1 g.45806103G>A - Clinical Genetics, LUMC, Leiden, NL MUTYH_000001 - - Germline (inherited) - - DNA SEQ leukocyte screen MUTYH gene (index) polyps Clinical Genetics, LUMC, Leiden, NL F (Netherlands) - - - - - 1 Carli Tops
?/? _1 c.-165C>T r.(=) p.(=) - - - - - Unknown g.45806091G>A - Peterlongo 2006 MUTYH_000083 1/160 alleles Frequency in 62 probands New York, 13 Milan, 5 Madrid Unknown - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) polyps Peterlongo 2006 - United States Spain, Italy Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan - - - 1 Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Unknown g.45806053G>A - http://egp.gs.washington.edu/data/mutyh/ MUTYH_000002 0.02 - Unknown - - DNA SEQ - - ? http://egp.gs.washington.edu/data/mutyh/ - - - - - - - 1 Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Unknown g.45806053G>A - Clinical Genetics, LUMC, Leiden, NL MUTYH_000002 - - Germline (inherited) - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, breast Clinical Genetics, LUMC, Leiden, NL F Netherlands - - - - - 1 Carli Tops
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Unknown g.45806053G>A - Peterlongo 2006 MUTYH_000002 4/160 alleles Frequency in 62 probands New York, 13 Milan, 5 Madrid Unknown - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) polyps Peterlongo 2006 - United States Spain, Italy Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan - - - 4 Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Unknown g.45806053G>A - Molecular Medicine, AUH, Skejby, Aarhus, DK MUTYH_000002 6/230 - Unknown - - DNA SEQ leukocyte - polyposis Molecular Medicine, AUH, Skejby, Aarhus, DK - Denmark - 6/115 polyposis and/or CRC patients heterozygous c.-127C>T; minor allele frequency 6/230 - - - 6 Mette Gaustadnes
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Parent #1 g.45806053G>A - Zhang 2006 MUTYH_000002 102/3186 (3.2%) - Germline (inherited) - - DNA SEQ buccal cells specific genotyping, test known variants (index) cancer, breast Zhang 2006 F United States white 2 (0.1%) homozygotes among 1593 breast cancer patients; 1 (0.08%) homozygote among 1261 controls - - - 2 Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Parent #2 g.45806053G>A - Zhang 2006 MUTYH_000002 102/3186 (3.2%) - Germline (inherited) - - DNA SEQ buccal cells specific genotyping, test known variants (index) cancer, breast Zhang 2006 F United States white 2 (0.1%) homozygotes among 1593 breast cancer patients; 1 (0.08%) homozygote among 1261 controls - - - 2 Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Unknown g.45806053G>A - Zhang 2006 MUTYH_000002 102/3186 (3.2%) - Germline (inherited) - - DNA SEQ buccal cells specific genotyping, test known variants (index) cancer, breast Zhang 2006 F United States white 98 (6.2%) heterozygotes among 1593 breast cancer patients; '96 (7.6%) heterozygotes among 1261 controls - - - 98 Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Parent #1 g.45806053G>A - Zhang 2006 MUTYH_000002 98/2522 (3.9%) - Germline (inherited) - - DNA SEQ buccal cells specific genotyping, test known variants (index) ? Zhang 2006 F United States white 1 (0.08%) homozygote among 1261 controls; 2 (0.1%) homozygotes among 1593 breast cancer patients - - - 1 Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Parent #2 g.45806053G>A - Zhang 2006 MUTYH_000002 98/2522 (3.9%) - Germline (inherited) - - DNA SEQ buccal cells specific genotyping, test known variants (index) ? Zhang 2006 F United States white 1 (0.08%) homozygote among 1261 controls; 2 (0.1%) homozygotes among 1593 breast cancer patients - - - 1 Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Unknown g.45806053G>A - Zhang 2006 MUTYH_000002 98/2522 (3.9%) - Germline (inherited) - - DNA SEQ buccal cells specific genotyping, test known variants (index) ? Zhang 2006 F United States white 96 (7.6%) heterozygotes among 1261 controls; 98 (6.2%) heterozygotes among 1593 breast cancer patients - - - 96 Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Unknown g.45806053G>A ex1+8C>T Figueroa 2007 MUTYH_000002 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - Germline (inherited) - - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, bladder Figueroa 2007 - Spain - - - - - 55 Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Parent #1 g.45806053G>A ex1+8C>T Figueroa 2007 MUTYH_000002 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - Germline (inherited) - - DNA SEQ leukocyte allelic discrimination, test known variant (index) cancer, bladder Figueroa 2007 - Spain - - - - - 1 Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Parent #2 g.45806053G>A ex1+8C>T Figueroa 2007 MUTYH_000002 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - Germline (inherited) - - DNA SEQ leukocyte allelic discrimination, test known variant (index) cancer, bladder Figueroa 2007 - Spain - - - - - 1 Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Unknown g.45806053G>A ex1+8C>T Figueroa 2007 MUTYH_000002 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - Germline (inherited) - - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? Figueroa 2007 - Spain - - - - - 48 Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Parent #1 g.45806053G>A ex1+8C>T Figueroa 2007 MUTYH_000002 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - Germline (inherited) - - DNA SEQ leukocyte allelic discrimination, test known variant (index) ? Figueroa 2007 - Spain - - - - - 1 Astrid Out
?/? _1 c.-127C>T r.(=) p.(=) - - - - - Parent #2 g.45806053G>A ex1+8C>T Figueroa 2007 MUTYH_000002 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - Germline (inherited) - - DNA SEQ leukocyte allelic discrimination, test known variant (index) ? Figueroa 2007 - Spain - - - - - 1 Astrid Out
?/? _1 c.-83G>A r.(=) p.(=) - - - - - Unknown g.45806009C>T - - MUTYH_000229 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? _1 c.-56G>C r.(=) p.(=) - - - - - Unknown g.45805982C>G - Gómez-Fernández 2009 MUTYH_000011 - new in this paper; not in 500 control chromosomes Unknown - - DNA SSCA, SEQ leukocyte Taqman 4 variants, screen MUTYH gene (index) cancer, colon Gómez-Fernández 2009 - Spain Galician or Catalonian - - - - 1 Astrid Out
?/? 13 c.?C>A r.? p.? - - - - - Unknown g.? 1249C>A (Leu406Met) - MUTYH_000000 - - Unknown - - DNA SEQ - - adenoma MGZ, MŸnchen, DE - (Germany) - since age 47 repeatedly adenomas extracted (histological reports classify them as hyperplastic polyps in almost all cases) - - - 6 Elke Holinski-Feder
-/? 12 c.?G>A r.(?) p.(?) PolyPhen PSIC 1.6 possibly damaging - - - - Parent #1 g.? 1082G>A (Arg350His) MGZ, MŸnchen, DE MUTYH_000000 - - Unknown - - DNA SEQ - - ? MGZ, MŸnchen, DE - (Germany) - diagnosed with carcinoma at age 24, reports show recurrent adenomas of the villous and tubulo-villous kind within the rectum and in all parts of the colon, at age 64 carcinoma of the the appendix, daughter healthy at age 59 - - - 1 Elke Holinski-Feder
-/? 12 c.?G>A r.(?) p.(?) PolyPhen PSIC 1.6 possibly damaging - - - - Parent #1 g.? 1082G>A (Arg350His) MGZ, MŸnchen, DE MUTYH_000000 - - Unknown - - DNA SEQ - - ? MGZ, MŸnchen, DE - (Germany) - no known clinic, predictive - - - 1 Elke Holinski-Feder
-/? 1 c.8C>T r.(=) p.(Pro3Leu) - - - - - Parent #1 g.45805919G>A - MGZ, MŸnchen, DE MUTYH_000178 - - Unknown - - DNA SEQ - - ? MGZ, MŸnchen, DE - (Germany) - - - - - 1 Elke Holinski-Feder
?/? 1 c.20G>A r.(20g>a) p.(Arg7His) - - - - - Unknown g.45805907C>T 20G>A (Arg7His) Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK MUTYH_000256 - - Unknown - - DNA SEQ leukocyte screen MUTYH gene (index) ? Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK - Denmark - - - - - 1 Rikke Veggerby Grønlund
+/? 1i c.36+1G>A r.spl p.0? - - - - - Unknown g.45805890C>T - Redeker (unpublished); AMC, Amsterdam, NL MUTYH_000224 - 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 - - polyposis Redeker (unpublished); AMC, Amsterdam, NL M Netherlands - - - - - 1 Bert Redeker
?/? 1i c.36+1G>A r.spl p.0? - - - - - Unknown g.45805890C>T - Niessen et al. 2006 MUTYH_000224 - MSH2: c.1729T>C Germline (inherited) - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) CRC Niessen et al. 2006 - Netherlands - 40 CRC/endometrial cancer patients with truncating MMR mutation (group I); 36 missense (group II). 134 similar patients without MMR mutation (0.7%); I: one monoallelic MUTYH (2.5%); group II: five monoallelic (14%), - - - 1 Astrid Out
?/? 1i c.36+11C>T r.(=) p.(=) - - - - - Parent #1 g.45805880G>A - Clinical Genetics, LUMC, Leiden, NL MUTYH_000003 - - Germline (inherited) - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, duodenal Clinical Genetics, LUMC, Leiden, NL M (Netherlands) - - - - - 1 Carli Tops
?/? 1i c.36+11C>T r.(=) p.(=) - - - - - Unknown g.45805880G>A - Tao 2008 MUTYH_000003 - - Unknown - - DNA PCR - - CRC Tao 2008 - Japan - 78 (11.4%) heterozygote or homozygote among 685 CRC patients; Haplotype 5.8% - - - 78 Astrid Out
?/? 1i c.36+11C>T r.(=) p.(=) - - - - - Unknown g.45805880G>A - Tao 2008 MUTYH_000003 - - Unknown - - DNA PCR - - ? Tao 2008 - Japan - 64 (8.2%) heterozygote or homozygote among 778 control subjects; Haplotype 4.0% - - - 64 Astrid Out
-?/? 1i c.36+11C>T r.(=) p.(=) - - - - - Unknown g.45805880G>A IVS1+11C>T Zhou 2005 MUTYH_000003 2,1% of n=84 www.fruitfly.org: no splicing effect Unknown - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) CRC Zhou 2005 - Sweden - 2,1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations - - - 1 Astrid Out
?/? 1i c.36+54G>A r.(=) p.(=) - - - - - Unknown g.45805837C>T - - MUTYH_000230 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+75C>G r.(=) p.(=) - - - - - Parent #1 g.45805816G>C - Clinical Genetics, LUMC, Leiden, NL MUTYH_000020 - - Unknown - - DNA SEQ - - ? Clinical Genetics, LUMC, Leiden, NL - Netherlands - - - - - 1 Carli Tops
?/? 1i c.36+267C>T r.(=) p.(=) - - - - - Unknown g.45805624G>A - Goto 2008 MUTYH_000200 1/46 alleles 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 Unknown - - DNA SEQ FFPE, non-cancerous gastric mucosa SEQ (ex1-16), screen MUTYH gene (index) cancer, gastric Goto 2008 - Japan - Among 23 Japanese gastric cancer patients - - - 1 Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - Unknown g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Kambara 2004 MUTYH_000004 - - Unknown - - DNA PCRdig, SEQ - - CRC Kambara 2004 M Australia - - - - - 1 Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - Unknown g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Kambara 2004 MUTYH_000004 - - Unknown - - DNA PCRdig, SEQ - - adenoma Kambara 2004 - Australia - - - - - 1 Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - Unknown g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Kambara 2004 MUTYH_000004 - - Unknown - - DNA PCRdig, SEQ - - ? Kambara 2004 - Australia - 2 healthy blood donors - - - 2 Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - Unknown g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Yamaguchi 2002 MUTYH_000004 - Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Unknown - - DNA SEQ - - cancer, lung Yamaguchi 2002 - - - among 51 lung cancer cell lines - - - 1 Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - Unknown g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Yamaguchi 2002 MUTYH_000004 - Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Unknown - - DNA SEQ - - cancer, oesophageal Yamaguchi 2002 - United States - among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients. - - - 1 Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - Unknown g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Yamaguchi 2002 MUTYH_000004 - Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Unknown - - DNA SEQ - - cancer, skin Yamaguchi 2002 - United States - among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients. - - - 1 Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - Unknown g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Yamaguchi 2002 MUTYH_000004 - Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Unknown - - DNA SEQ - - CRC Yamaguchi 2002 - United States - among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients. - - - 2 Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - Parent #1 g.45805566C>G IVS1+5G>C; 156+5G>C MGZ, MŸnchen, DE MUTYH_000004 - - Unknown - - DNA SEQ - - ? MGZ, MŸnchen, DE - (Germany) - - - - - 1 Elke Holinski-Feder
?/? 1i c.36+325G>C r.spl p.? - - - - - Unknown g.45805566C>G 35+325G>C Barnetson 2007 MUTYH_000004 0.01 (?); n=225 - Unknown - - DNA SEQ - - cancer, endometrial Barnetson 2007 - Ireland - detected in one or more of the 5 patients heterozygous for c.536A>G or c.1187G>A. Exact combinations not specified. - - - 1 Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - Unknown g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) NCBI reference sequence NT_032977.9 MUTYH_000004 - Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Unknown - - DNA SEQ - - ? NCBI reference sequence NT_032977.9 - - - Minor C allele found in MUTYH genomic reference sequence. G is major allele according to Yamaguchi 2002 and dbSNP3219468: ss4911226 - - - 1 Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - Unknown g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) NCBI reference sequence NC_000001.10 MUTYH_000004 - Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Unknown - - DNA SEQ - - ? NCBI reference sequence NC_000001.10 - - - Minor C allele found in MUTYH genomic reference sequence. G is major allele according to Yamaguchi 2002 and dbSNP3219468: ss4911226 - - - 1 Astrid Out
?/? 1i c.36+325G>C r.spl p.? - - - - - Unknown g.45805566C>G IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) Plotz 2012 MUTYH_000004 1/54 controls The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA Germline (inherited) - - DNA, RNA SEQ, TaqMan leukocyte - polyposis Plotz 2012 F Germany german - - - - 1 Guido Plotz
?/? 1i c.36+325G>C r.? p.? - - - - - Unknown g.45805566C>G - Plotz 2012 MUTYH_000004 1/54 controls The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA Germline (inherited) - - DNA SEQ, TaqMan leukocyte - ? Plotz 2012 F Germany German Control individual, age 34 - - - 1 Guido Plotz
?/? 1i c.36+478C>G r.(=) p.(=) - - - - - Unknown g.45805413G>C - - MUTYH_000231 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+721C>T r.(=) p.(=) - - - - - Unknown g.45805170G>A - - MUTYH_000232 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+830G>A r.(=) p.(=) - - - - - Unknown g.45805061C>T - - MUTYH_000233 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+845G>C r.(=) p.(=) - - - - - Unknown g.45805046C>G - - MUTYH_000234 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+847T>C r.(=) p.(=) - - - - - Unknown g.45805044A>G - - MUTYH_000235 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+852A>G r.(=) p.(=) - - - - - Unknown g.45805039T>C - - MUTYH_000236 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+991_36+992insA r.(=) p.(=) - - - - - Unknown g.45804899_45804900insT - - MUTYH_000237 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+1464_36+1465del r.(=) p.(=) - - - - - Unknown g.45804426_45804427del - - MUTYH_000291 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+1466_36+1467insAC r.(=) p.(=) - - - - - Unknown g.45804424_45804425insGT - - MUTYH_000292 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+1467_36+1468insAC r.(=) p.(=) - - - - - Unknown g.45804423_45804424insGT - - MUTYH_000293 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+1474dup r.(=) p.(=) - - - - - Unknown g.45804417dup - - MUTYH_000290 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+1474dup r.(=) p.(=) - - - - - Unknown g.45804417dup - - MUTYH_000290 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+1563dup r.(=) p.(=) - - - - - Unknown g.45804328dup - - MUTYH_000294 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+1802G>A r.(=) p.(=) - - - - - Unknown g.45804089C>T - - MUTYH_000295 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+1841G>A r.(=) p.(=) - - - - - Unknown g.45804050C>T IVS1+1520 A/G (beta transcript); NM_001048174.1: -7+1521G>A (beta transcript) Yamaguchi 2002 MUTYH_000164 - - Unknown - - DNA SEQ - - cancer, lung Yamaguchi 2002 - - - multiple among 51 lung cancer cell lines - - - 2 Astrid Out
?/? 1i c.36+1945C>T r.(=) p.(=) - - - - - Unknown g.45803946G>A - - MUTYH_000297 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+1946dup r.(=) p.(=) - - - - - Unknown g.45803945dup - - MUTYH_000296 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+2351C>T r.(=) p.(=) - - - - - Unknown g.45803540G>A - - MUTYH_000298 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+2478T>C r.(=) p.(=) - - - - - Unknown g.45803413A>G - - MUTYH_000299 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.36+2774G>A r.(=) p.(=) - - - - - Unknown g.45803117C>T - - MUTYH_000300 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.37-2653C>A r.(=) p.(=) - - - - - Unknown g.45802836G>T - - MUTYH_000301 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.37-2487T>G r.(=) p.(=) - - - - - Unknown g.45802670A>C - - MUTYH_000245 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.37-2139T>C r.(=) p.(=) - - - - - Unknown g.45802322A>G - - MUTYH_000302 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.37-2002T>C r.(=) p.(=) - - - - - Unknown g.45802185A>G - - MUTYH_000303 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.37-1960G>C r.(=) p.(=) - - - - - Unknown g.45802143C>G IVS1+3427 C/G (beta transcript); NM_001048174.1: -6-1960G>C (beta transcript) Yamaguchi 2002 MUTYH_000165 - - Unknown - - DNA SEQ - - cancer, lung Yamaguchi 2002 - - - multiple among 51 lung cancer cell lines - - - 2 Astrid Out
?/? 1i c.37-1798G>A r.(=) p.(=) - - - - - Unknown g.45801981C>T - - MUTYH_000304 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.37-1747T>C r.(=) p.(=) - - - - - Unknown g.45801930A>G - - MUTYH_000305 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.37-1192T>G r.(=) p.(=) - - - - - Unknown g.45801375A>C - - MUTYH_000306 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.37-1074C>T r.(=) p.(=) - - - - - Unknown g.45801257G>A - - MUTYH_000307 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.37-1040A>G r.(=) p.(=) - - - - - Unknown g.45801223T>C - - MUTYH_000308 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.37-1015A>G r.(=) p.(=) - - - - - Unknown g.45801198T>C - - MUTYH_000309 - - Germline (inherited) - - - - - - - - - - - - - - - - -
?/? 1i c.37-89dup r.(=) p.(=) - - - - - Unknown g.45800272dup - - MUTYH_000310 - - Germline (inherited) - - - - - - - - - - - - - - - - -
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