NAT2 I114T - GET-Evidence

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

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NAT2 I114T

(NAT2 Ile114Thr)

Short summary


Variant evidence
Computational 2

SIFT: Affect protein function
GVGD: GV 0.00; GD 89.28; Class C65
Variant Effect Predictor (Ensembl ): SIFT=tolerated(0.05);
Mutation Tasting prediction: Polymorphism p value: 0.006365; Protein features (might be) affected.

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


Insufficiently evaluated pharmacogenetic

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • C @ chr8:18257854: 39.8% (4283/10758) in EVS
  • C @ chr8:18302133: 31.2% (40/128) in GET-Evidence
  • Frequency shown in summary reports: 39.8% (4283/10758)


Olivera M, Martínez C, Gervasini G, Carrillo JA, Ramos S, Benítez J, García-Martin E, Agúndez JA. Effect of common NAT2 variant alleles in the acetylation of the major clonazepam metabolite, 7-aminoclonazepam. Drug Metab Lett. 2007 Jan;1(1):3-5. PubMed PMID: 19356010.




hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr8:18257854


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr8:18257854










hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr8:18257854










hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr8:18257854




huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr8:18257854



huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr8:18257854


huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr8:18257854




huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr8:18257854




GS06985 - var-GS06985-1100-36-ASM
hom C @ chr8:18302134


GS07357 - var-GS07357-1100-36-ASM
het C @ chr8:18302134


GS10851 - var-GS10851-1100-36-ASM
het C @ chr8:18302134


GS12004 - var-GS12004-1100-36-ASM
het C @ chr8:18302134


GS18504 - var-GS18504-1100-36-ASM
het C @ chr8:18302134


GS18947 - var-GS18947-1100-36-ASM
het C @ chr8:18302134


GS19017 - var-GS19017-1100-36-ASM
het C @ chr8:18302134


GS19020 - var-GS19020-1100-36-ASM
het C @ chr8:18302134


GS19025 - var-GS19025-1100-36-ASM
het C @ chr8:18302134


GS19238 - var-GS19238-1100-36-ASM
het C @ chr8:18302134


GS19648 - var-GS19648-1100-36-ASM
hom C @ chr8:18302134


GS19649 - var-GS19649-1100-36-ASM
hom C @ chr8:18302134


GS19703 - var-GS19703-1100-36-ASM
hom C @ chr8:18302134


GS19735 - var-GS19735-1100-36-ASM
hom C @ chr8:18302134


GS20509 - var-GS20509-1100-36-ASM
het C @ chr8:18302134


Other external references

  • rs1801280
  • [clonazepam]
    in vitro study; PK: 20-fold reduction in Vmax vs wild type
  • [Urinary Bladder Neoplasms]
    Homozygotes for the C allele are thought to be slowest acetylator phenotype (altered rates of metabolism of arylamines) of the NAT2 phenotypes, though results from one study indicated requirement for an additional SNP C481T;this is the most strongly associated of the NAT2 polymorphisms with risk of bladder cancer and with adverse drug reactions.; PubMed ID:10971207; PubMed ID:12351146; PubM

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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