FMO3 E308G - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

FMO3 E308G

(FMO3 Glu308Gly)


Short summary

 

Variant evidence
Computational 3

PolyPhen: Probably damaging 0.998
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 97.85; Class C65
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.28);
PolyPhen=probably_damaging(0.999);
Condel=deleterious(0.976)
Mutation Tasting Prediction: Polymorphism, P value: 0.120228; 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

  • G @ chr1:171083242: 13.7% (1476/10758) in EVS
  • G @ chr1:169349865: 11.7% (15/128) in GET-Evidence
  • Frequency shown in summary reports: 13.7% (1476/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr1:171083242

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr1:171083242

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr1:171083242

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr1:171083242

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr1:171083242

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr1:171083242

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr1:171083242

 

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr1:171083242

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr1:171083242

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr1:171083242

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr1:171083242

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr1:171083242

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr1:171083242

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr1:171083242

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr1:171083242

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr1:171083242

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr1:169349866

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr1:169349866

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr1:169349866

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr1:169349866

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr1:169349866

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr1:169349866

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr1:169349866

 

Other external references
 

    dbSNP
  • rs2266780
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.141 (benign)
    Web search results (90 hits -- see all)
  • Genetic Polymorphisms of Flavin Monooxygenase 3 in Sulindac ...
    Of the loci examined, only E158K and E308G showed polymorphic changes. ... Of note is that both E158K and E308G variants are associated with decreased FMO3 activity (21) ...
    www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2213626
  • Homo sapiens FMO3 Allelic Variant Database - Table of All ...
    E308G. Exon. 7. 923. 308. Transition. 0. A. G. GAG. GGG. Glu. Gly. 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
  • BioMed Central | Full text | Polymorphisms of the Flavin ...
    FMO3 genotypes (E158K, V257M, E308G) were determined in 387 healthy subjects ... that the E308G polymorphism shows a substantial decrease in FMO3 activity in the ...
    www.biomedcentral.com/1471-2350/6/41
  • Functional Characterization of Genetic Variants of Human FMO3 ...
    FMO3 is a major form of the enzyme present in adult human liver, where it plays an ... The E158K, V257M, E308G and E158K/E308G mutants metabolized both TMA and benzydamine with ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2039921/?tool=pmcentrez
  • 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
  • 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
  • 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
  • <!DOCTYPE xhtml PUBLIC "-/W3C/DTD XHTML 1.0 Transitional/EN ...
    ... 491-494|9398858|[]|[]|[]|[]Genomic DNA|[]|No|E308G|[]|Yes|&gt;100|[]|Wed,13 Nov ... 923A&gt;G|E308G|[]|[]|[]|Exon|7|923|308|[]|Transition|0|[]|A|G|[]|GAG|GGG|Glu ...
    human-fmo3.biochem.ucl.ac.uk/Human_FMO3/.../Human_FMO3.txt
  • Oxidative and Electrophilic Stress - Children's Environmental ...
    Toxicology with the Zebrafish Model - NIEHS Children's Environmental Health Sciences Core Center ... and E308G exhibit a more pronounced effect on FMO3 function, even ...
    www4.uwm.edu/cehsc/research/res_grp3.html
  • Mutations of the flavin-containing monooxygenase gene (FMO3 ...
    Human FMO3 cDNA primers were selected to amplify introns on the assumption that the ... E308G was also observed on three normal chromosomes, indicating that ...
    hmg.oxfordjournals.org/cgi/content/full/7/5/839

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in