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

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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47 entries
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01 c.8C>T p.(Pro3Leu) r.(=) MGZ, München, DE - - MUTYH_00178 substitution, base pair - - - - DNA SEQ - - - - - -
01i c.36+11C>T p.(=) r.(=) Zhou et al., 2005 IVS1+11C>T - MUTYH_00003 substitution, base pair - www.fruitfly.org: no splicing effect - 2,1% of n=84 DNA, leukocyte DHPLC, SEQ (ex1-16) screen MUTYH gene (group) - - - - -
02 c.64G>A
  (Reported 20 times)
p.(Val22Met) r.(64g>a) Küry et al., 2007 - - MUTYH_00005 substitution, base pair missense - - 6/200 DNA SEQ - - - - - -
02i c.157+30A>G
  (Reported 7 times)
p.(=) r.(=) Görgens et al., 2006 - - MUTYH_00006 substitution, base pair - - - - DNA SEQ - - - - - -
02i c.157+75G>A
  (Reported 2 times)
p.(=) r.(=) Zhou et al., 2005 IVS2+75G>A - MUTYH_00154 substitution, base pair - www.fruitfly.org: no splicing effect - 1.1% of n=84 DNA, leukocyte DHPLC, SEQ (ex1-16) screen MUTYH gene (group) - - - - -
03 c.224T>A p.(Val75Glu) r.(224u>a) Goto et al., 2010 c.182T>A, c.140T>A p.(Val61Glu), p.V47E MUTYH_00028 substitution, base pair missense in vitro test - - DNA SEQ in vitro test in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine no reduced activity in vitro assay - -
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.307T>C
  (Reported 2 times)
p.(Trp103Arg) r.(307u>c) MGZ, München, DE c.265T>C p.(Trp89Arg) MUTYH_00181 substitution, base pair missense - - - 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 2 times)
p.(=) r.(=) Küry et al., 2007 c.346+56G>A - MUTYH_00009 substitution, base pair - - - - 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) - - - - -
05i c.463-47C>T p.(=) r.(=) Küry et al., 2007 c.421-47C>T - MUTYH_00147 substitution, base pair - - - - DNA SEQ - - - - - -
05i c.463-39C>T p.(=) r.(=) Olschwang et al., 2007 c.421-39C>T - MUTYH_00128 substitution, base pair - - - - DNA SEQ - - - - - -
06i c.504+35G>A
  (Reported 23 times)
p.(=) r.(=) Görgens et al., 2006 c.462+35G>A - MUTYH_00010 substitution, base pair - - - - DNA SEQ - - - - - -
06i c.505-4A>G p.(=) r.(=) Clinical Genetics, ErasmusMC, Rotterdam, NL c.463-4A>G - MUTYH_00242 substitution, base pair - no effect splice prediction - - DNA-l SEQ Screen MUTYH gene (index) - - - - -
07 c.536A>G
  (Reported 2 times)
p.(Tyr179Cys) r.(?) - c.494A>G p.(Tyr165Cys) MUTYH_00012 substitution, base pair missense - - - DNA SEQ - - - - - -
08 c.667A>G
  (Reported 2 times)
p.(Ile223Val) r.(667a>g) MGZ, München, DE c.625A>G p.(Ile209Val) MUTYH_00045 substitution, base pair missense - - - DNA SEQ - - - - - -
08 c.680C>T
  (Reported 2 times)
p.(Ala227Val) r.(680c>u) MGZ, München, DE c.638C>T p.(Ala213Val) MUTYH_00185 substitution, base pair missense - - - DNA SEQ - - - - - -
08i c.690+12G>A(?) p.(=) r.(=) Al-Tassan et al., 2003 c.648+12C>A - MUTYH_00284 substitution, base pair - reported as c.648+12C>A, but on this position there is a G in the reference sequence germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
08i c.690+21C>A
  (Reported 5 times)
p.(=) r.(=) Küry et al., 2007 c.648+21C>A - MUTYH_00070 substitution, base pair - - - - DNA SEQ - - - - - -
09 c.734G>A p.(Arg245His) r.(734g>a) Olschwang et al., 2007 c.692G>A p.(Arg231His) MUTYH_00051 substitution, base pair missense - - - DNA SEQ - - - - - -
10 c.869G>A p.(Cys290Trp) r.(869g>a) Al-Tassan et al., 2003 c.827G>A p.(Cys276Trp) MUTYH_00058 substitution, base pair missense - germline - DNA, leukocyte specific assay Screen MUTYH gene (index) - - - - -
10 c.925C>T p.(Arg309Cys) r.(925c>u) Goto et al., 2010 c.883C>T; c.841C>T p.(Arg295Cys); p.R281C MUTYH_00019 substitution, base pair missense functional test - - DNA SEQ in vitro in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine glycosylase activity as wildtype - - -
11 c.972G>A p.(=); p.(Ser324Ser) r.(972g>a) Medical Genetics, UZ Gent, Gent, BE c.930G>A p.(Ser310Ser) MUTYH_00247 substitution, base pair silent This variant was found in a patient heterozygote for 2 deleterious mutations (c.1147del and p.Gly396Asp) - 1/182 DNA-l SEQ - - - - - -
11i c.998-27G>A
  (Reported 3 times)
p.(spl?); p.(=) r.(spl?); r.(=) Olschwang et al., 2007 c.956-27G>A - MUTYH_00137 substitution, base pair ? - - - DNA SEQ - - - - - -
11i c.998-9C>T p.(=) r.(=) Küry et al., 2007 c.956-9C>T - MUTYH_00100 substitution, base pair - Alamut: no major effect predicted on acceptor splice site of intron 11 - - DNA SEQ - - - - - -
11i c.998-8G>A p.(=) r.(=) MGZ, München, DE c.956-8G>A - MUTYH_00187 substitution, base pair - carries nonsense change in APC; Alamut: no major effect predicted on acceptor splice site of intron 11 - - DNA SEQ - - - - - -
12 c.?G>A
  (Reported 2 times)
p.(?) r.(?) MGZ, München, DE c.1082G>A p.(Arg350His) MUTYH_00000 substitution, base pair missense - - - DNA SEQ - - - - - -
12 c.1014G>C
  (Reported 84 times)
p.(Gln338His) r.(1014g>c) Görgens et al., 2006 c.972G>C p.(Gln324His) MUTYH_00063 substitution, base pair missense - - - DNA SEQ - - - - - -
12 c.1038G>A (p.=) - Kairupan et al., 2005 c.996G>A; G996A p.(Ser332Ser) MUTYH_00064 substitution, base pair splice mutation - - - DNA, leukocytes Pyrosequencing, SEQ screen MUTYH gene (index) - - - - -
12 c.1118C>T p.(Ala373Val) - Goto et al., 2010 c.1034C>T;c.1076C>T A359V; A345V MUTYH_00109 substitution, base pair missense in vitro test ? (unknown) - DNA SEQ in vitro functional test in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine glycosylase activity as wildtype - - -
12i c.1186+42_1186+43del p.(=) r.= Génétique Moléculaires, CHRU, Lille, FR c.1144+42_1144+43del; c.1186+42_1186+43delAA - MUTYH_00218 deletion, small - No splice defect detected by RT-PCR and sequencing germline - DNA-l SEQ - RT-PCR No splice defect detected - - -
12i c.1187-27C>T
  (Reported 3 times)
p.(=) r.(=) Olschwang et al., 2007 c.1145-27C>T - MUTYH_00104 substitution, base pair - - - - DNA SEQ - - - - - -
13 c.1276C>T
  (Reported 2 times)
p.(Arg426Cys) r.(1276c>u) Al-Tassan et al., 2003 c.1234C>T p.(Arg412Cys) MUTYH_00081 substitution, base pair missense - germline - DNA, leukocyte specific assay Screen MUTYH gene (index) - - - - -
13 c.1316T>C p.(Leu439Pro) r.(?) - c.1316T>C p.Leu439Pro MUTYH_00332 substitution, base pair - - germline - DNA-l SEQ - - - - - -
14 c.1431G>C
  (Reported 4 times)
p.(=); p.(Thr477Thr) r.(1431g>c) Olschwang et al., 2007 c.1389G>C p.(Thr463Thr) MUTYH_00085 substitution, base pair silent - - - DNA SEQ - - - - - -
14i c.1477-40G>C
  (Reported 18 times)
p.(=) r.(=) Görgens et al., 2006 c.1435-40G>C - MUTYH_00106 substitution, base pair - - - - DNA SEQ - - - - - -
14i c.1477-38A>G p.(=) r.(=) Al-Tassan et al., 2003 c.1435-38A>G - MUTYH_00285 substitution, base pair - - germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
14i c.1477-17G>T p.(=) r.(=) Küry et al., 2007 c.1435-17C>T - MUTYH_00148 substitution, base pair - Alamut: no major splice site change predicted - - DNA SEQ - - - - - -
15 c.1508G>A p.(Gly503Glu) r.(1508g>a) MGZ, München, DE c.1466G>A p.(Gly489Glu) MUTYH_00176 substitution, base pair missense - - - DNA SEQ - - - - - -
15i c.1518+27G>A p.(=) r.(=) Al-Tassan et al., 2003 c.1476+27G>A - MUTYH_00286 substitution, base pair - - germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - -
15i c.1519-83G>C p.(=) r.(=) Küry et al., 2007 c.1477-83G>C; c.1481-83G>C (intron 15) - MUTYH_00149 substitution, base pair - - - - DNA SEQ - - - - - -
16 c.1544C>T
  (Reported 16 times)
p.(Ser515Phe) r.(1544c>u) Görgens et al., 2006 c.1502C>T p.(Ser501Phe) MUTYH_00094 substitution, base pair missense - - - DNA SEQ - - - - - -
16 c.1547C>T
  (Reported 2 times)
p.(Pro516Leu) r.(1547c>u) Fleischmann et al., 2004 c.1505C>T p.(Pro502Leu) MUTYH_00095 substitution, base pair missense - - - DNA ? - - - - - -
16 c.1548G>A
  (Reported 2 times)
p.(=); p.(Pro516Pro) r.(1548g>a) Olschwang et al., 2007 c.1506G>A - MUTYH_00144 substitution, base pair silent - - - DNA SEQ - - - - - -
16 c.1585C>A p.(Leu529Met) r.(1585c>a) MGZ, München, DE c.1543C>A p.(Leu515Met) MUTYH_00177 substitution, base pair missense - - - DNA SEQ - - - - - -
16 c.1601G>A
  (Reported 4 times)
p.(Arg534Gln) r.(1601g>a) Olschwang et al., 2007 c.1559G>A p.(Arg520Gln) MUTYH_00096 substitution, base pair missense - - - DNA SEQ - - - - - -
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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