AGT T207M - GET-Evidence

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

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Curation:
Currentness:

AGT T207M

(AGT Thr207Met)


Short summary

This variant is questionably associated with an increased risk of coronary artery disease. Also known as rs4762, commonly referred to in literature as T174M, but databases now indicate this amino acid is #207.

Variant evidence
Computational 5

Variant Effect Predictor (Ensembl):
SIFT=deleterious(0.01);
PolyPhen=probably_damaging(1);
Condel=deleterious(0.996)
Mutation Tasting Prediction: Polymorphism, P value: 0.869879; protein features (might be) affected.
PolyPhen2: Probably damaging 1.000
SIFT: AFFECT PROTEIN FUNCTION 0.00
GVGD: GV 0.00; GD 81.04; Class C65
Multi-alignment of P01019.1 [Homo sapiens] with: Q9GLN8.1 [Pan troglodytes] Q9GLP6.1 [Gorilla gorilla] NP_001009032.1 [Pan troglodytes] XP_002809353.1 [Pongo abelii] XP_002809355.1 [Pongo abelii] CAH91483.1 [Pongo abelii] XP_003267297.1 [Nomascus leucogenys] XP_001107374.2 [Macaca mulatta] BAE87376.1 [Macaca fascicularis] XP_002809354.1 [Pongo abelii]

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 @ chr1:230845977: 10.8% (1160/10758) in EVS
  • A @ chr1:228912599: 9.0% (11/122) in GET-Evidence
  • Frequency shown in summary reports: 10.8% (1160/10758)

Publications
 

Tsai CT, Hwang JJ, Lai LP, Wang YC, Lin JL, Chiang FT. Interaction of gender, hypertension, and the angiotensinogen gene haplotypes on the risk of coronary artery disease in a large angiographic cohort. Atherosclerosis. 2009 Mar;203(1):249-56. doi: 10.1016/j.atherosclerosis.2008.06.004. Epub 2008 Jun 19. PubMed PMID: 18653189.

 

Ono M, Ochi T, Munekage K, Ogasawara M, Hirose A, Nozaki Y, Takahashi M, Okamoto N, Saibara T. Angiotensinogen gene haplotype is associated with the prevalence of Japanese non-alcoholic steatohepatitis. Hepatol Res. 2011 Dec;41(12):1223-9. doi: 10.1111/j.1872-034X.2011.00883.x. Epub 2011 Oct 11. PubMed PMID: 21988197.

 

Park HK, Kim MC, Kim SM, Jo DJ. Assessment of two missense polymorphisms (rs4762 and rs699) of the angiotensinogen gene and stroke. Exp Ther Med. 2013 Jan;5(1):343-349. Epub 2012 Jan 11. PubMed PMID: 23251296; PubMed Central PMCID: PMC3524280.

 

Genomes
 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr1:230845977

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr1:230845977

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr1:230845977

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr1:230845977

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr1:230845977

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr1:230845977

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr1:228912600

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr1:228912600

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr1:228912600

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr1:228912600

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr1:228912600

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr1:228912600

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr1:228912600

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr1:228912600

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr1:228912600

 

Other external references
 

    dbSNP
  • rs4762
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the AGT gene
    Cardiovascular Disease Risk Factor (Angiotensinogen)
    Hyperoxaluria, Primary, Type 1
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AGT
    PolyPhen-2
  • Score: 0.992 (probably damaging)
    Web search results (18 hits -- see all)
  • Koroner Arter Hastalığı ile Anjiyotensinojen T207M ve Faktör II,
    Anjiyotensinojen (AGT) T207M, faktör V ve faktör II gen polimorfizminin koroner arter hastalığı (KAH) riski ile ilişkisi birbiri ile çelişen sonuçlar ...
    www.firattipdergisi.com/pdf.php3?id=324
  • Fırat Tıp Dergisi
    Anjiyotensinojen (AGT) T207M, faktör V ve faktör II gen polimorfizminin koroner ... AGT T207M gen varyasyonunun koroner kalp hastalığı ile ilişkisi ilk olarak Ko ve ...
    www.firattipdergisi.com/text.php3?id=324
  • SNPs Identified in AGT
    T207M. C/T. WIPGA_03_111. 331. chr1:227881310. Mis-sense. view. E98K. G/A. Download a spreadsheet ... Candidate Gene List > AGT Main Page > SNPs Identified in AGT ...
    cardiogenomics.med.harvard.edu/.../AGT_validated_SNPs.html
  • Association Between Angiotensinogen, Angiotensin II Receptor ...
    The AGT rs7079 (C/T) SNP (3'-untranslated region) was significantly associated ... Conclusion— AGT SNP rs7079 and AGTR1 haplotypes were associated with ...
    circ.ahajournals.org/cgi/content/full/115/6/725
  • Angiotensinogen gene polymophism predicts blood pressure ...
    Four SNPs, -6 A/G, T207M, M268T and C11537A, were selected based on the TagSNP ... a SNP in 3-UTR of the AGT gene is associated with DBP response to ...
    www.ashg.org/genetics/abstracts/abs06/f1735.htm
  • DOI: 10.1161/CIRCULATIONAHA.106.642058 published online Jan ...
    explained by the AGT SNP and AGTR1 haplotype groups were 13% for systolic and 9 ... Conclusion—AGT SNP rs7079 and AGTR1 haplotypes were associated with BP reduction ...
    circ.ahajournals.org/cgi/.../CIRCULATIONAHA.106.642058v1.pdf
  • patient-oriented and epidemiological research
    AGT. Cardiovascular events. rs4762. Missense (T207M) AGTR1. Cardiovascular events. rs5183 ... AGT. rs4762. T207M. 0.39. 0.92. 0.91. 0.87. 0.59. 0.67. AGTR1. rs5183. P354P ...
    www.jlr.org/cgi/reprint/48/9/2072.pdf
  • Genetic Analysis Of Fluvastatin Response And Dyslipidemia In ...
    AGT. Cardiovascular events. rs4762. Missense (T207M) AGTR1. Cardiovascular events. rs5183 ... AGT. rs4762 T207M 0.39. 0.92. 0.91. 0.87. 0.59 0.67. AGTR1. rs5183 P354P ...
    www.jlr.org/cgi/reprint/M700076-JLR200v1.pdf?ck=nck
  • Hypertension sub-cluster 46
    The gene for angiotensinogen (AGT) carries two common polymorphisms, T207M and M268T (previously described as ... association analysis of AGT variants with hypertension-related ...
    www.biomedsearch.com/cluster/89/Hypertension/sub-46-p8.html
  • http://www.luric.de - 15
    Im Gen für Angiotensinogen, AGT, gibt es in der europäischen Bevölkerung zwei häufige Variationen, die als T207M und M268T bezeichnet werden. ...
    luric.de/index.php?...&task=view&id=47&Itemid=61

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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