Protein Truncation Abnormality

Preferred Label : Protein Truncation Abnormality;

NCIt synonyms : Truncation; Protein Truncation;

NCIt definition : Translation of a truncated form of a wild-type protein that originates from a mutation or mutations in the coding sequence of a gene. Genetic alterations that yield truncated protein products include frameshift mutations, nonsense mutations or splice site mutations. The activity of a truncated protein is usually reduced or abolished in comparison to the activity of the wild-type protein.;

Details

Origin ID

C45596;

UMLS CUI

C1706395;

Automatic exact mappings (from CISMeF team)
- truncated [Radlex concept]
Currated CISMeF NLP mapping
- truncation [Disease (Nov.)]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
abnormality_associated_with_allele
- CYP2C19*2 Allele [NCIt concept]
- CYP2C8*5 Allele [NCIt concept]
- CYP2C8*7 Allele [NCIt concept]
- CYP2D6*13 Allele [NCIt concept]
- CYP2D6*4 Allele [NCIt concept]
- CYP2D6*6 Allele [NCIt concept]
- CYP2D6*8 Allele [NCIt concept]
- CYP3A5*3 Allele [NCIt concept]
- CYP3A5*6 Allele [NCIt concept]
is_abnormality_of_gene_product
- Carboxypeptidase E-deltaN [NCIt concept]
- G1/S-Specific Cyclin-D1b [NCIt concept]

Keyword's position in hierarchy(ies) :

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