Preferred Label : NOTCH1 Truncation Mutation;
NCIt synonyms : TAN1 Truncation Mutation; Notch, Drosophila, Homolog of, 1 Truncation Mutation; Notch Homolog 1 Truncation Mutation; Notch 1 Truncation Mutation; hN1 Truncation Mutation;
NCIt definition : Nonsense, frameshift, or splice-site mutations involving the NOTCH1 gene that result
in a premature stop codon and production of shortened forms of neurogenic locus notch
homolog protein 1. NOTCH1 truncation mutations that remove the intracellular PEST
domain, which normally promotes protein degradation, may stabilize the protein and
lead to aberrant activation of NOTCH signaling pathways. However, truncations in the
extracellular domains may produce inactive forms of the protein.;
Origin ID : C217530;
concept_is_in_subset
- molecular_abnormality_involves_gene
