All transcript variants in gene FMO3

Information The variants shown are described using the NM_001002294.2 transcript reference sequence.

164 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

Enzyme activity     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/- _1 c.-979C>G - - r.(=) p.(=) - g.171059150C>G g.171090009C>G -2650C>G - FMO3_000095 no effect on transcription in vitro PubMed: Koukouritaki et al. 2005 - rs1736560 Germline ? HapMap 0.332 (Eur), 0.558 (Jpn), 0.124 (Afr) - 0 - Ian Phillips
-/- _1 c.-918C>T - - r.(=) p.(=) - g.171059211C>T g.171090070C>T -2589C>T - FMO3_000096 no effect on transcription in vitro PubMed: Koukouritaki et al. 2005 - - Germline ? 0.040 (white American), 0.007 (African American), 0.007 (Hispanic American) - 0 - Ian Phillips
-/- _1 c.-872T>A - - r.(=) p.(=) - g.171059257T>A g.171090116T>A -2543T>A - FMO3_000097 no effect on transcription in vitro PubMed: Koukouritaki et al. 2005 - rs12404218 Germline ? HapMap 0.066 (Eur), 0.256 (Jpn), 0.080 (Afr) - 0 - Ian Phillips
?/? _1 c.-506G>C - - r.(=) p.(=) - g.171059623G>C g.171090482G>C -2177G>C - FMO3_000098 increases transcription in vitro by up to 8-fold, effect in vivo unknown PubMed: Koukouritaki et al. 2005 - rs3754491 Germline ? HapMap 0.100 (Eur), 0.244 (Jpn), 0.075 (Afr) - 0 - Ian Phillips
?/? _1 c.-435G>A - - r.(=) p.(=) - g.171059694G>A g.171090553G>A -2106G>A - FMO3_000099 decreases transcription in vitro, effect in vivo unknown PubMed: Koukouritaki et al. 2005 - rs16864006 Germline ? HapMap 0.000 (Eur), 0.000 (Asian), 0.031 (Afr) - 0 - Ian Phillips
?/? _1 c.-428A>G - - r.(=) p.(=) - g.171059701A>G g.171090560A>G -2099A>G - FMO3_000100 effect unknown PubMed: Koukouritaki et al. 2005 - - Germline ? 0/1204 control chromosomes - 0 - Ian Phillips
+/+ _1_2i c.-421_133-993del - - r.? p.? - g.171059708_171071933del g.171090567_171102792del g.-2092 to 10145del - FMO3_000091 12226-bp deletion including exons 1 and 2 and the translational start codon. One homozygous proband of Greek ancestry. PubMed: Forrest et al. 2006 - - Germline yes - - 0 - Ian Phillips
+/+ _1_2i c.-421_133-993del - - r.? p.? - g.171059708_171071933del g.171090567_171102792del - - FMO3_000091 Expected to affect metabolism of drug substrates of FMO3 - - - SUMMARY record - - - 0 - Ian Phillips
?/? _1 c.-290T>C - - r.(=) p.(=) - g.171059839T>C g.171090698T>C -1961T>C - FMO3_000101 no effect on transcription in vitro PubMed: Koukouritaki et al. 2005 - rs16864007 Germline ? HapMap 0.000 (Eur), 0.000 (Asian), 0.031 (Afr) - 0 - Ian Phillips
+/+ 4_9 c.[341A>G;1322T>C] - - - p.[Asn114Ser;Ile441Thr] - g.[171076835A>G;171086305T>C] - - - FMO3_000000 cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.22) and benzydamine (0.16) PubMed: Shimizu 2012 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
-/- 2 c.72G>T - - r.(?) p.(Glu24Asp) - g.171061871G>T g.171092730G>T g.72G>T - FMO3_000034 - PubMed: Koukouritaki et al. 2005, PubMed: Koukouritaki et al. 2007 - - Germline no 2/400 chromosomes (non-Latino white), 0/404 (Hispanic American), 0/402 (African American) - 0 - Ornicha Prapapan
?/? 2 c.72G>T - - - p.Glu24Asp - g.171061871G>T g.171092730G>T - - FMO3_000034 small increase in kcat/Km for TMA and methimazole; no effect for sulindac or ethylenethiourea PubMed: Koukouritaki 2005, PubMed: Koukouritaki 2007 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 2 c.94G>A - - r.(?) p.(Glu32Lys) - g.171061893G>A g.171092752G>A g.94G>A - FMO3_000003 rare variant. Het in 1 individual PubMed: Zhang et al. 2003 - rs72549320 Germline yes 0/98 chromosomes - 0 - Ornicha Prapapan
+/+ 2 c.94G>A - - - p.Glu32Lys - g.171061893G>A g.171092752G>A - - FMO3_000003 Variant expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S-oxygenation. PubMed: Zhang 2003 - rs72549320 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 2 c.94G>A - - r.(?) p.(Glu32Lys) - g.171061893G>A g.171092752G>A - - FMO3_000003 abolishes enzyme activity for TMA and for methimazole and 5-DPT PubMed: Zhang 2003 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 2 c.110T>C - - r.(?) p.(Ile37Thr) - g.171061909T>C g.171092768T>C g.110T>C - FMO3_000029 het in 1 Italian TMAU proband PubMed: Teresa et al. 2006 - - Germline yes 0/200 chromosomes - 0 - Ornicha Prapapan
-/- 3 c.136C>A - - r.(?) p.(His46Asn) - g.171072929C>A g.171103788C>A - - FMO3_000046 Rare variant. 1/140 chromosomes in Koreans PubMed: Park et al. 1999 - - Germline no 1/140 chromosomes - 0 - Ornicha Prapapan
+/+ 3 c.151A>G - - r.(?) p.(Arg51Gly) - g.171072944A>G g.171103803A>G g.11145A>G - FMO3_000030 Rare variant. 1 homozygous proband. PubMed: Mazon Ramos et al. 2003 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 3 c.154G>A - - r.(?) p.(Ala52Thr) - g.171072947G>A g.171103806G>A g.11148G>T - FMO3_000018 Het in 1 of 8 patients PubMed: Akerman et al. 1999 - rs72549321 Germline yes 0/60 chromosomes - 0 - Ornicha Prapapan
+/+ 3 c.172G>A - - r.(?) p.(Val58Ile) - g.171072965G>A g.171103824G>A g.11166G>A - FMO3_000007 1 Thai; impaired TMA N-oxygenation capacity PubMed: Kubota 2002 - rs144935285 Germline yes - - 0 - Ornicha Prapapan
+/+ 3 c.172G>A - - - p.Val58Ile - g.171072965G>A g.171103824G>A - - FMO3_000007 Vmax/Km for TMA 79% decreased PubMed: Kubota 2002 - rs72549332 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 3 c.172G>A - - - p.Val58Ile - g.171072965G>A g.171103824G>A - - FMO3_000007 cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.72) and benzydamine (0.46) PubMed: Shimizu 2012 - rs72549332 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 3 c.172G>A - - r.(?) p.(Val58Ile) - g.171072965G>A g.171103824G>A - - FMO3_000007 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation - - - SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 3 c.172G>A - - r.(?) p.(Val58Ile) heterozygous FMO3 metabolic activity 0.60 g.171072965G>A g.171103824G>A g.16882G>A - FMO3_000007 - PubMed: Shimizu 2012 - rs144935285 Germline yes 6/1280 chromosomes - 0 - Ornicha Prapapan
+/+ 3 c.172G>A - - r.(?) p.(Val58Ile) heterozygous FMO3 metabolic activity 0.65 g.171072965G>A g.171103824G>A g.16882G>A - FMO3_000007 - PubMed: Shimizu 2012 - rs144935285 Germline yes 6/1280 chromosomes - 0 - Ornicha Prapapan
+/+ 3 c.182A>G - - r.(?) p.(Asn61Ser) - g.171072975A>G g.171103834A>G g.11177A>G - FMO3_000002 Rare variant. 2 patients compound hets with P153L PubMed: Dolphin et al. 2000 - rs72549322 Germline yes 0/118 chromosomes - 0 - Ornicha Prapapan
+/+ 3 c.182A>G - - - p.Asn61Ser - g.171072975A>G g.171103834A>G - - FMO3_000002 abolishes N-oxygenation of TMA, but no effect on S-oxygenation of methimazole PubMed: Dolphin 2000 - rs72549331 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 3 c.182A>G - - r.(?) p.(Asn61Ser) - g.171072975A>G g.171103834A>G - - FMO3_000002 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation, but not those that undergo S-oxygenation - - rs72549331 SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 3 c.183C>A - - r.(?) p.(Asn61Lys) - g.171072976C>A g.171103835C>A g.11177C>A - FMO3_000035 Low-frequency polymorphic variant (0.052 in white, 0.035 in African-Americans) that severely reduces activity. Expected to cause TMAU, but not reported in patients. PubMed: Koukouritaki et al. 2005, PubMed: Koukouritaki et al. 2007 - - Germline ? see Remarks - 0 - Ornicha Prapapan
+/+ 3 c.183C>A - - - p.Asn61Lys - g.171072976C>A g.171103835C>A - - FMO3_000035 bbolishes activity for TMA and ethylenethiourea, severely reduces activity for methimazole and sulindac PubMed: Koukouritaki 2005, PubMed: Koukouritaki 2007 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 3 c.183C>A - - r.(?) p.(Asn61Lys) - g.171072976C>A g.171103835C>A - - FMO3_000035 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S- oxygenation - - - SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 3 c.192delA - - r.(?) p.(Glu65Argfs*2) - g.171072985delA g.171103844delA A191 deletion; g.11185delA - FMO3_000036 Also known as M66X and K64Rfs. Truncated protein. Rare variant, 1 individual, compound het with P153L PubMed: Zhang et al. 2003 - - Germline yes 0/174 Chromosomes - 0 - Ornicha Prapapan
+/+ 3 c.192delA - - r.(?) p.(Glu65Argfs*2) - g.171072985delA g.171103844delA - - FMO3_000036 Expected to affect metabolism of drug substrates of FMO3 - - - SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 3 c.198G>T - - r.(?) p.(Met66Ile) - g.171072991G>T g.171103850G>T g.11192G>T - FMO3_000012 Rare variant. 2 probands of Irish origin. PubMed: Akerman et al. 1999, PubMed: Treacy et al. 1998 - rs72549323 Germline yes 0/360 - 0 - Ornicha Prapapan
+/+ 3 c.198G>T - - - p.Met66Ile - g.171072991G>T g.171103850G>T - - FMO3_000012 abolishes activity for TMA PubMed: Treacy 1998,PubMed: Akerman 1999 - rs72549323 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 3 c.198G>T - - r.(?) p.(Met66Ile) - g.171072991G>T g.171103850G>T - - FMO3_000012 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation - - rs72549323 SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 3 c.209C>T - - r.(?) p.(Pro70Leu) heterozygous FMO3 metabolic activity 0.17 g.171073002C>T g.171103861C>T g.16919C>T - FMO3_000014 - PubMed: Shimizu 2012 - - Germline yes 2/1280 chromosomes - 0 - Ornicha Prapapan
+/+ 3 c.209C>T - - - p.Pro70Leu - g.171073002C>T g.171103861C>T - - FMO3_000014 cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.55) and benzydamine (0.46) PubMed: Shimizu 2012 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 3 c.209C>T - - r.(?) p.(Pro70Leu) - g.171073002C>T g.171103861C>T - - FMO3_000014 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation - - - SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 3 c.209C>T - - r.(?) p.(Pro70Leu) heterozygous FMO3 metabolic activity 0.60 g.171073002C>T g.171103861C>T g.16919C>T - FMO3_000014 - PubMed: Shimizu 2012 - - Germline yes 2/1280 chromosomes - 0 - Ornicha Prapapan
+/+ 3 c.245T>C - - r.(?) p.(Met82Thr) - g.171073038T>C g.171103897T>C g.11239T>C - FMO3_000019 Rare variant. 1 homozygous proband. Filipino mother, father not known PubMed: Murphy et al. 2000 - rs72549324 Germline yes 0/50 chromosomes - 0 - Ornicha Prapapan
+/+ 3 c.245T>C - - - p.Met82Thr - g.171073038T>C g.171103897T>C - - FMO3_000019 abolishes activity for TMA and methimazole PubMed: Murphy 2000 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 3 c.245T>C - - r.(?) p.(Met82Thr) - g.171073038T>C g.171103897T>C - - FMO3_000019 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S- oxygenation - - - SUMMARY record - - - 0 - Ornicha Prapapan
-/- 4 c.341A>G - - r.(?) p.(Asn114Ser) - g.171076835A>G g.171107694A>G g.15036A>G - FMO3_000005 not causative of TMAU, no effect in vitro PubMed: Shimizu et al. 2007 - rs186763441 Germline no 0/100 chromosomes - 0 - Ornicha Prapapan
-/- 4 c.341A>G - - r.(?) p.(Asn114Ser) heterozygous FMO3 metabolic activity 0.34 g.171076835A>G g.171107694A>G - - FMO3_000005 - PubMed: Shimizu 2012 - rs186763441 Germline no 1/1280 chromosomes - 0 - Ornicha Prapapan
+?/+? 4 c.394G>C - - r.(?) p.(Asp132His) - g.171076888G>C g.171107747G>C g.15089G>C - FMO3_000033 Population-specific polymorphic variant: African Americans (7/260 chromosomes), European Americans (0/240 chromosomes). dbSNP: 0/88 Asian chromosomes. Possibly causative of moderate TMAU; homozygotes excreted ~70% of TMA as TMA N-oxide PubMed: Furnes et al. 2003, PubMed: Lattard et al. 2003 - rs12072582 Germline ? - - 0 - Ornicha Prapapan
+?/+? 4 c.394G>C - - - p.Asp132His - g.171076888G>C g.171107747G>C - - FMO3_000033 substrate-dependent reduction in activity: 60% for TMA, 30% for methimazole and 6% for 5-DPT PubMed: Cashman 2003 - rs12072582 In vitro (cloned) - - - 0 - Ornicha Prapapan
+?/+? 4 c.394G>C - - r.(?) p.(Asp132His) - g.171076888G>C g.171107747G>C - - FMO3_000033 expected to have a moderate substrate-dependent effect on metabolism of drug substrates of FMO3 - - rs12072582 SUMMARY record - - - 0 - Ornicha Prapapan
?/? 4 c.428T>A - - r.(?) p.(Val143Glu) - g.171076922T>A g.171107781T>A g.15123T>A - FMO3_000020 Polymorphic variant (0.07 frequency). One proband, in cis with the common polymorphic variant p.Glu158Lys and compound het with p.Pro153Leu. PubMed: Basarab et al. 1999 - - Germline yes 6/88 chromosomes - 0 - Ornicha Prapapan
-/- 4 c.441C>T - - r.(=) p.(=) - g.171076935C>T g.171107794C>T 15019A>C (S147S) - FMO3_000092 - PubMed: Koukouritaki et al. 2005 - rs1800822 Germline no HapMap 0.066 (Eur), 0.227 (Jpn), 0.031 (Afr) - 0 - Ian Phillips
-/. - c.441C>T - benign r.(=) p.(=) - g.171076935C>T - FMO3:NM_006894.5:c.441C>T (= (Ser147Ser) - FMO3_000092 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 4 c.442G>T - - r.(?) p.(Gly148*) - g.171076936G>T g.171107795G>T g.15137G>T - FMO3_000006 Rare variant. 1/140 Korean chromosomes. Truncated protein. Expected to cause TMAU; het had low FMO3 activity as judged by low theobromine/caffeine ratio (0.64) PubMed: Park et al. 1999 - rs72549325 Germline ? 1/140 chromosomes - 0 - Ornicha Prapapan
-/- 4 c.445C>T - - r.(?) p.(His149Tyr) - g.171076939C>T g.171107798C>T - - FMO3_000055 Rare variant. 1 in 140 Korean chromosomes. PubMed: Park et al. 1999 - - Germline no 1/140 chromosomes - 0 - Ornicha Prapapan
+/+ 4 c.458C>T - - r.(?) p.(Pro153Leu) - g.171076952C>T g.171107811C>T g.15153C>T - FMO3_000001 Rare variant. 14 probands of European origin PubMed: Dolphin et al. 1997, PubMed: Treacy et al. 1998 - rs72549326 Germline yes 0/60 chromosomes - 0 - Ornicha Prapapan
+/+ 4 c.458C>T - - - p.Pro153Leu - g.171076952C>T g.171107811C>T - - FMO3_000001 variant expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S-oxygenation; impaired benzydamine N-oxygenation in compound het with E305X or with S173R PubMed: Mayatepek 2004 - rs72549326 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 4 c.458C>T - - - p.Pro153Leu - g.171076952C>T g.171107811C>T - - FMO3_000001 abolishes activity for TMA and methimazole PubMed: Treacy 1998, PubMed: Dolphin 1997 - rs72549326 In vitro (cloned) - - - 0 - Ornicha Prapapan
-/- 4 c.472G>A - - r.(?) p.(Glu158Lys) - g.171076966G>A g.171107825G>A g.15167G>A - FMO3_000008 Common polymorphic variant: 0.48 (African),0.42 (European), 0.21 (Asian) (HapMAP). Effect greater when present in cis with p.Glu308Gly. Associated with increased risk of sudden infant death syndrome (SIDS) (Poetsch et al 2010); homozygotes for E158K-E308G in cis can exhibit transient childhood TMAU PubMed: Brunelle et al. 1997, PubMed: Dolphin et al. 1997, PubMed: Treacy et al. 1998, PubMed: Zschocke et al. 1999, PubMed: Park et al. 1999, PubMed: Furnes et al. 2003, PubMed: Poetsch et al. 2010 - rs2266782 Germline no - - 0 - Ornicha Prapapan
-/- 4 c.472G>A - - - p.Glu158Lys - g.171076966G>A g.171107825G>A - - FMO3_000008 caffeine and clozapine: no effect on metabolism PubMed: Sachse 1999 - rs2266782 In vitro (cloned) - - - 0 - Ornicha Prapapan
-/- 4 c.472G>A - - - p.Glu158Lys - g.171076966G>A g.171107825G>A - - FMO3_000008 Sulindac: patients homozygous for E158K exhibit enhanced polyp regression in response to treatment PubMed: Sachse 1999, PubMed: Hisamuddin 2004, PubMed: Hisamuddin 2005, PubMed: Soderberg 2012 - rs2266782 In vitro (cloned) - - - 0 - Ornicha Prapapan
-/- 4 c.472G>A - - - p.Glu158Lys - g.171076966G>A g.171107825G>A - - FMO3_000008 Olanzapine: homozygotes for E158K and E308G have lower N-oxide serum concentrations PubMed: Soderberg 2012 - rs2266782 In vitro (cloned) - - - 0 - Ornicha Prapapan
?/? 4 c.472G>A - - - p.Glu158Lys - g.171076966G>A g.171107825G>A - - FMO3_000008 little/moderate substrate-dependent effect, results vary among labs, effect greater when present in cis with p.Glu308Gly: kcat/Km for methimazole reduced 16% (p.Glu158Lys) and 57% (p.Glu158Lys-Glu308Gly) (Allerston 2009). E158K shows 5-fold increased tamoxifen N-oxygenation (Krueger 2006). PubMed: Dolphin 1997, PubMed: Treacy 1998, PubMed: Zschocke 1999 - rs72549321 In vitro (cloned) - - - 0 - Ornicha Prapapan
?/. 4 c.472G>A - - r.(?) p.(Glu158Lys) heterozygous FMO3 metabolic activity 0.69 g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 - PubMed: Shimizu 2012 - rs2266782 Germline yes - - 0 - Ornicha Prapapan
-/. - c.472G>A - benign r.(?) p.(Glu158Lys) - g.171076966G>A - FMO3:c.472G>A (E158K) - FMO3_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.472G>A - benign r.(?) p.(Glu158Lys) - g.171076966G>A - FMO3:NM_001002294.2(FMO3):c.472G>A (Glu158Lys) - FMO3_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 5 c.517A>C - - r.(?) p.(Ser173Arg) - g.171077252A>C g.171108111A>C S173R - FMO3_000102 One proband, compound het with P153L. DNA change was not reported so could be c.517A>C or c.519C>G. PubMed: Mayatepek et al. 2004 - - Germline ? - - 0 - Elizabeth A. Shephard
+/+ 5 c.517A>C - - - p.Ser173Arg - g.171077252A>C g.171108111A>C - - FMO3_000102 impaired benzydamine N-oxygenation in compound het with P153L PubMed: Mayatepek 2004 - - In vitro (cloned) - - - 0 - Elizabeth A. Shephard
-/- 5 c.539G>T - - r.(?) p.(Gly180Val) - g.171077274G>T g.171108133G>T g.15475G>T - FMO3_000042 Polymorphic variant (0.08 in Europeans). PubMed: Dolphin et al. 2000, PubMed: Teresa et al. 2006 - rs75904274 Germline no 2/24 caucasian - 0 - Ornicha Prapapan
-/- 5 c.539G>T - - - p.Gly180Val - g.171077274G>T g.171108133G>T - - FMO3_000042 no effect on N-oxygenation of TMA or S-oxygenation of methimazole PubMed: Dolphin 2000 - rs75904274 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 5 c.560T>C - - r.(?) p.(Val187Ala) - g.171077295T>C g.171108154T>C - - FMO3_000070 Rare variant. One proband in 100 individuals. Compound het with p.Glu305*. No effect when present alone, but severe reduction of activity when present in cis with p.Glu158Lys. PubMed: Motika et al. 2009 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 5 c.560T>C - - - p.Val187Ala - g.171077295T>C g.171108154T>C - - FMO3_000070 Expected to affect metabolism of drug substrates of FMO3, when in cis with p.Glu158Lys PubMed: Motika 2009 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
-?/-? 5 c.560T>C - - - p.Val187Ala - g.171077295T>C g.171108154T>C - - FMO3_000070 no effect alone, when present in cis with p.Glu158Lys kcat/Km for N-oxygenation of TMA is reduced 98% and for S-oxygenation of methimazole is reduced 75% PubMed: Motika 2009 - rs28363549 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 5 c.584C>T - - r.(?) p.(Ser195Leu) - g.171077319C>T g.171108178C>T - - FMO3_000017 - PubMed: Park 1999 - - Germline yes 1/140 chromosomes - 0 - Ornicha Prapapan
+/+ 5 c.584C>T - - - p.Ser195Leu - g.171077319C>T g.171108178C>T - - FMO3_000017 cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.06) and benzydamine (0.09) PubMed: Shimizu 2012 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 5 c.584C>T - - r.(?) p.(Ser195Leu) - g.171077319C>T g.171108178C>T - - FMO3_000017 Expected to affect N-oxygenation of drug substrates of FMO3 - - - SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 5 c.584C>T - - r.(?) p.(Ser195Leu) heterozygous FMO3 metabolic activity 0.69 g.171077319C>T g.171108178C>T g.21236C>T - FMO3_000017 - PubMed: Shimizu 2012 - - Germline yes 1/1280 chromosomes - 0 - Ornicha Prapapan
+/+ 5 c.591_592del - - r.(?) p.(Cys197*) - g.171077326_171077327del g.171108185_171108186del g.15526_15527delTG, c.591_592TG>del - FMO3_000037 Japanese probands, 1 compound het with P70L PubMed: Fujieda 2003 - rs3832024 Germline yes - - 0 - Ornicha Prapapan
+/+ 5 c.591_592del - - r.(?) p.(Cys197*) heterozygous FMO3 metabolic activity 0.69 g.171077326_171077327del g.171108185_171108186del Cys197stop - FMO3_000037 - PubMed: Shimizu 2012 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 5 c.591_592del - - r.(?) p.(Cys197*) heterozygous FMO3 metabolic activity 0.17 g.171077326_171077327del g.171108185_171108186del Cys197stop - FMO3_000037 - PubMed: Shimizu 2012 - rs3832024 Germline yes - - 0 - Ornicha Prapapan
+/+ 5 c.591_592del - - r.(?) p.(Cys197*) heterozygous FMO3 metabolic activity 0.21 g.171077326_171077327del g.171108185_171108186del g.21243_21244TGdel - FMO3_000037 - PubMed: Yamazaki 2007 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 5 c.591_592del - - r.(?) p.(Cys197*) heterozygous FMO3 metabolic activity 0.86 g.171077326_171077327del g.171108185_171108186del g.21243_21244TGdel - FMO3_000037 - PubMed: Yamazaki 2007 - - Germline - - - 0 - Ornicha Prapapan
?/? 5 c.594T>A - - r.(?) p.(Asp198Glu) - g.171077329T>A g.171108188T>A g.15531T>A - FMO3_000021 Rare variant. 7 Japanese probands, 1 homozygous and 6 hets. In all cases occurs in cis with the rare variant p.Cys197* and, thus, would not be represented in the resultant truncated protein. PubMed: Fujieda et al. 2003, Shimizu et al. (in press) - - Germline yes 0/44 chromosomes - 0 - Ornicha Prapapan
+?/+? 5 c.596T>C - - r.(?) p.(Ile199Thr) - g.171077331T>C g.171108190T>C g.155533T>C - FMO3_000022 Rare variant. 2 het probands. Probably causative of TMAU PubMed: Zschocke et al. 1999 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 5 c.602C>A - - r.(?) p.(Thr201Lys) - g.171077337C>A g.171108196C>A g.15539C>A - FMO3_000088 One Japanese proband. Occurs in cis with p.Glu158Lys and p.Glu308Gly, compound het with p.Arg205Cys PubMed: Shimizu et al. 2006 - - Germline yes 0/70 chromosomes - 0 - Ornicha Prapapan
+/+ 5 c.602C>A - - - p.Thr201Lys - g.171077337C>A g.171108196C>A - - FMO3_000088 severe reduction (~90%) reduction of activity for TMA, benzydamine, methyl p-tolyl sulfide and sulindac sulfide PubMed: Shimizu 2006 - rs72549324 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 5 c.602C>A - - r.(?) p.(Thr201Lys) - g.171077337C>A g.171108196C>A - - FMO3_000088 Expected to affect metabolism of drug substrates of FMO3 - - rs72549324 SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 5 c.613C>T - - r.(?) p.(Arg205Cys) - g.171077348C>T g.171108207C>T g.15550C>T - FMO3_000041 Japanese probands PubMed: Fujieda 2003 - rs28363549 Germline yes 0/44 chromosomes - 0 - Ornicha Prapapan
+/+ 5 c.613C>T - - - p.Arg205Cys - g.171077348C>T g.171108207C>T - - FMO3_000041 75% reduction in activity for TMA PubMed: Yamazaki 2007 - rs2266782 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 5 c.613C>T - - - p.Arg205Cys - g.171077348C>T g.171108207C>T - - FMO3_000041 reduction in activity of 30-35% for N-oxygenation of TMA and benzydamine and 50-60% for S-oxygenation of sulindac sulfide and methyl p-tolyl sulfide (Shimizu et al 2007) PubMed: Shimizu 2007 - rs2266782 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 5 c.613C>T - - r.(?) p.(Arg205Cys) - g.171077348C>T g.171108207C>T - - FMO3_000041 Expected to affect metabolism of drug substrates of FMO3 - - rs2266782 SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 5 c.613C>T - - r.(?) p.(Arg205Cys) heterozygous FMO3 metabolic activity 0.34 g.171077348C>T g.171108207C>T - - FMO3_000041 - PubMed: Shimizu 2012 - rs28363549 Germline yes - - 0 - Ornicha Prapapan
+/+ 5 c.613C>T - - r.(?) p.(Arg205Cys) heterozygous FMO3 metabolic activity 0.65 g.171077348C>T g.171108207C>T Arg205Cys - FMO3_000041 - PubMed: Shimizu 2012 - rs28363549 Germline yes - - 0 - Ornicha Prapapan
-?/-? 5 c.613C>T - - r.(?) p.(Arg205Cys) heterozygous FMO3 metabolic activity 0.86 g.171077348C>T g.171108207C>T g.21265C>T - FMO3_000041 - PubMed: Yamazaki 2007 - - Germline - - - 0 - Ornicha Prapapan
-?/-? 5 c.613C>T - - r.(?) p.(Arg205Cys) heterozygous FMO3 metabolic activity 0.84 g.171077348C>T g.171108207C>T g.21265C>T - FMO3_000041 - PubMed: Yamazaki 2007 - - Germline no - - 0 - Ornicha Prapapan
-/. - c.627+10C>G - benign r.(=) p.(=) - g.171077372C>G - FMO3:c.627+10C>G - FMO3_000108 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.627+10C>G - benign r.(=) p.(=) - g.171077372C>G - FMO3:NM_001002294.2(FMO3):c.627+10C>G (?) - FMO3_000108 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 6 c.668G>A - - r.(?) p.(Arg223Gln) - g.171079979G>A g.171110838G>A g.18177G>A - FMO3_000004 Rare variant. 1 Japanese-American proband, compound het with p.Arg492Trp. Severe TMAU. 0/88 control chromosomes. Preti et al. 2002 J. Invest Dermatol 119, 244 - - Germline yes 0/88 chromosomes - 0 - Ornicha Prapapan
+/+ 6 c.668G>A - - r.(?) p.(Arg223Gln) - g.171079979G>A g.171110838G>A - - FMO3_000004 Expected to affect metabolism of drug substrates of FMO3 - - rs2266780 SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 6 c.713G>A - - r.(?) p.(Arg238Gln) - g.171080024G>A g.171110883G>A g.18225G>A - FMO3_000044 Rare variant. 1 adult homozygous who exhibited TMAU symptoms and 1 het child in Norwegian family. 1 additional adult (European) homozygote. PubMed: Mayatepek et al. 2004, PubMed: Allerston et al. 2009 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 6 c.713G>A - - - p.Arg238Gln - g.171080024G>A g.171110883G>A - - FMO3_000044 impaired benzydamine N-oxygenation in homozygotes PubMed: Mayatepek 2004 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 6 c.713G>A - - - p.Arg238Gln - g.171080024G>A g.171110883G>A - - FMO3_000044 abolished activity PubMed: Mayatepek 2004, PubMed: Allerston 2009 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
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