TPMT*2 Allele - CISMeF

Preferred Label : TPMT*2 Allele;

NCIt synonyms : TPMT, A80P; TPMT-2 Allele; TPMT, c.393C G;

NCIt definition : Human TPMT*2 allele is located in the vicinity of 6p22.3 and is approximately 26 kb in length. This allele, a variant form of the TPMT wild-type allele, encodes thiopurine S-methyltransferase protein. TPMT*2 allele exhibits a clinically-relevant SNP (c.393G C) that results in an A80P coding change. This alteration in protein sequence severely decreases the enzymatic activity of the protein encoded by this allelic variant.;

NCIt note : The location of the SNP within this allelic variant is reported in the literature to be at nucleotide 238. This number is in reference to the start of the open reading frame of the cDNA sequence. Relative to the start of the cDNA sequence, this SNP is located at nucleotide 393.;

Details

Origin ID

C46063;

UMLS CUI

C1710317;

OMIM relation
- Thiopurine s-methyltransferase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Guanosine to Cytosine Transversion Abnormality [NCIt concept]
allele_has_activity
- Decreased Biochemical Activity [NCIt concept]
allele_in_chromosomal_location
- 6p22.3 [NCIt concept]
gene_associated_with_disease
- Thiopurine Methyltransferase Deficiency [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Drug Metabolism [NCIt concept]
- Methylation [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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