LP64739-3
TPMT gene.c.719A>G
Active
Description
The TPMT gene (thiopurine S-methyltransferase) [HGNC Gene ID:12014] is located on chromosome 6p22.3. This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014] [NCBI Gene ID:7172] Eight known mutations in variants TPMT*2 through *7 account for 90-95% of cases of TPMT deficiency, with four of them, all subtypes of TPMT*3, accounting for 75%. The 8 mutations are as follows: c.238G>C (TPMT*2), c.460G>A and c.719A>G (TPMT*3A), c.460G>A (TPMT*3B), c.719A>G (TPMT*3C), intron 9/exon10 splice junction mutation (TPMT*4), c.146C>T (TPMT*5), c.539A>T (TPMT*6), c.681T>G (TPMT*7). PMID: 11067806 Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- TPMT gene.c.719A>G
- Part Display Name
- TPMT gene c.719A>G
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-07-24
- Construct for LOINC Short Name
- TPMT c.719A>G
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | TPMT 基因.c.719A>G Synonyms: TPMT p.A719G |
| et-EE | Estonian (Estonia) | TPMT geen.p.A719G |
| es-ES | Spanish (Spain) | Gen TPMT c.719A>G |
| it-IT | Italian (Italy) | TPMT, gene.c.719A>G Synonyms: Gene TPMT c.719A>G |
| tr-TR | Turkish (Turkey) | TPMT geni.c.719A>G |
| ru-RU | Russian (Russian Federation) | TPMT ген.c.719A>G |
| nl-NL | Dutch (Netherlands) | TPMT-gen.c.719A>G Synonyms: TPMT gen.c.719A>G |
| fr-FR | French (France) | TPMT gène mutation c.719A>G |
| pl-PL | Polish (Poland) | TPMT gen.c.719A>G Synonyms: Gen TPMT c.719A>G (p.Tyr240Cys) |
| el-GR | Greek (Greece) | Γονίδιο TPMT.c.719A>G Synonyms: Γονίδιο TPMT.c.719A>G |
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