Terminology Service for NFDI4Health
JSON

FLT3 Activation Loop Mutation

Go to external page http://purl.obolibrary.org/obo/NCIT_C120063

A mutation in the region of the FLT3 gene that encodes the second tyrosine kinase domain of the receptor-type tyrosine-protein kinase FLT3 that causes the stabilization of the activation loop of the kinase domain. FLT3 activation loop mutations lead to constitutive tyrosine kinase activity and are associated with acute myeloid leukemia. [ ]

Term info

Label

FLT3 Activation Loop Mutation

Synonyms
  • FLT3 A-Loop Mutation
  • FLT3 Activation Loop Mutation
  • FLT3 Tyrosine Kinase Domain Mutation
  • FLT3-ALM
  • FLT3-TKD Mutation
  • FLT3/TKD Mutation
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

The majority of FLT3 activation loop mutations involve the deletion of or point mutations in codon 835 (aspartate 835) or point mutations in codon 836 (isoleucine 836).

Display Name

FLT3 Activation Loop Mutation

Preferred Name

FLT3 Activation Loop Mutation

Semantic Type

Cell or Molecular Dysfunction

UMLS CUI

C3899165

code

C120063