EZH2 Y646

Y646突变与生发中心B型DLBCL和滤泡性非霍奇金淋巴瘤的诊断有关。体外实验结果表明,这可能是因为EZH2对蛋白质H3K27的甲基转移酶活性降低(Morin等人,2010年)。
Mutations of Y646 are associated with a diagnosis of Germinal Center B type DLBCL and Follicular non-Hodgkin Lymphoma. In vitro experimental findings suggest that this may be due to reduced methyltransferase activity of EZH2 on protein H3K27 (Morin et al., 2010).

别名

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
7148508726148508728
Transcript
ENST00000320356.2

基因序列