AKT1 E17K

AKT1 E17K是一种在乳腺癌、结直肠癌、肺癌和卵巢癌中观察到的复发性突变。令人信服的是,它是一种导致PI3K/AKT/MTOR通路活性的激活突变。有人认为这种突变降低了细胞对AKT1变构激酶抑制剂的敏感性。这一突变和其他AKT1突变是治疗学研究和开发的课题。
AKT1 E17K is a recurrent mutation that has been observed in breast, colorectal, lung, and ovarian cancer. It has been convincingly shown to be an activating mutation resulting in PI3K/AKT/mTOR pathway activity. It has been suggested that this mutation decreases the cell's sensitivity to AKT1 allosteric kinase inhibitors. This, and other AKT1 mutations, are the subject of much research and development for therapeutics.

别名

GLU17LYS,RS34409589
Allele Registry ID:CA123660
ClinVar ID:13983

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
14105246551105246551CT
Transcript
ENST00000407796.2

基因序列

NC_000014.8:g.105246551C>003eT
NM_001014432.1:c.49G>003eA
NP_001014432.1:p.Glu17Lys
ENST00000407796.2:c.49G>003eA