FMO3 E158K - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

FMO3 E158K

(FMO3 Glu158Lys)


Short summary

 

Variant evidence
Computational 3

PolyPhen2: Benign, score 0.005
SIFT: Affect protein function 0.04
GVGD: GV 44.60; GD 56.87; Class C15
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.87);
PolyPhen=benign(0.028);
Condel=neutral(0.039)
Mutation Tasting Prediction: Polymorphism, P value: 0.995013; no protein features affected.

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr1:171076966: 42.9% (4613/10758) in EVS
  • A @ chr1:169343589: 43.0% (55/128) in GET-Evidence
  • Frequency shown in summary reports: 42.9% (4613/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr1:171076966

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr1:171076966

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr1:171076966

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr1:171076966

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr1:171076966

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr1:171076966

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr1:171076966

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom A @ chr1:171076966

 

 

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr1:171076966

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr1:171076966

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr1:171076966

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom A @ chr1:171076966

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr1:171076966

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr1:171076966

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr1:171076966

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr1:171076966

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr1:171076966

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr1:171076966

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom A @ chr1:171076966

 

GS06985 - var-GS06985-1100-36-ASM
hom A @ chr1:169343590

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr1:169343590

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr1:169343590

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr1:169343590

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr1:169343590

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr1:169343590

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr1:169343590

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr1:169343590

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr1:169343590

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr1:169343590

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr1:169343590

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr1:169343590

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr1:169343590

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr1:169343590

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr1:169343590

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr1:169343590

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr1:169343590

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr1:169343590

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr1:169343590

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr1:169343590

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr1:169343590

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr1:169343590

 

GS19670 - var-GS19670-1100-36-ASM
hom A @ chr1:169343590

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr1:169343590

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr1:169343590

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr1:169343590

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr1:169343590

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr1:169343590

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr1:169343590

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr1:169343590

 

Other external references
 

    dbSNP
  • rs2266782
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (96 hits -- see all)
  • Environmental Health Perspectives: Monthly Journal of Peer ...
    Environmental Health Perspectives (EHP) is a monthly journal of peer-reviewed research ... BCHEA539T, FMO1C–9536A, 
FMO3E158K, ALDH3A1S134A, and GSTT1 (null) ...
    ehp03.niehs.nih.gov
  • Novel variants of the human flavin-containing monooxygenase 3 ...
    Novel variants of the human flavin-containing monooxygenase 3 (FMO3) gene associated with trimethylaminuria. ... FMO3 variants V187A and V187A/E158K were characterized for ...
    ncbi.nlm.nih.gov/pubmed/19321370?ordinalpos=1&...
  • BioMed Central | Full text | Polymorphisms of the Flavin ...
    FMO3 genotypes (E158K, V257M, E308G) were determined in 387 healthy subjects ... Why are FMO3 variants maintained in population, and in particular the E158K variant? ...
    www.biomedcentral.com/1471-2350/6/41
  • Homo sapiens FMO3 Allelic Variant Database - Table of All ...
    E158K. 50% Exon. 4. 472. 158. Transition. 0. G. A. GAG. AAG. Glu. Lys. Missense. Unchanged. Unchanged ... Vmax/Km of mutant-type FMO3 was about 5 times < than wt FMO3 ...
    human-fmo3.biochem.ucl.ac.uk/Human_FMO3/Tables/tableall.html
  • Flavin monooxygenase 3 (FMO3) polymorphism in a white ...
    FMO3 polymorphisms M66I, P153L, E158K, V257M, E305X, E308G, and R492W ... Subjects with these frequent variants of FMO3, however, did not differ in clozapine ...
    www.ncbi.nlm.nih.gov/pubmed/10546928
  • BMC Medical Genetics
    FMO3 gene confer an increased risk for elevated blood pressure and/or essential ... Methods: FMO3 genotypes (E158K, V257M, E308G) were determined in 387 healthy subjects with ...
    www.biomedcentral.com/content/pdf/1471-2350-6-41.pdf
  • ENVIRONMENTAL HEALTH PERSPECTIVES ENVIRONMENTAL HEALTH ...
    given our results for FMO3. E158K, this coding region SNP is in linkage disequilibrium ... polymorphisms in FMO3 and BCHE, especially those in the promoter region, would ...
    ehp.niehs.nih.gov/members/2009/0901226/0901226.pdf
  • PowerPoint
    FMO3 polymorphisms E158K and E308G have been shown to occur more frequently in FAP ... FMO3 polymorphisms E158K and E308G will produce proteins that exhibit lower affinity for ...
    oregonstate.edu/dept/biochem/hhmi/.../2008/Bemer.ppt
  • Oxidative and Electrophilic Stress - Children's Environmental ...
    Toxicology with the Zebrafish Model - NIEHS Children's Environmental Health Sciences Core Center ... the E158K and E308G exhibit a more pronounced effect on FMO3 function, even ...
    www4.uwm.edu/cehsc/research/res_grp3.html
  • Directory of open access journals
    FMO3 genotypes (E158K, V257M, E308G) were determined in 387 healthy subjects ... suggest that the variants in the FMO3 gene do not predispose to essential ...
    www.doaj.org/doaj?func=abstract&id=126557&recNo=41&toc=1

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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