NOTCH1 P2514FS

这种突变破坏了正常条件下促进降解的C末端害虫结构域,导致活性Notch1亚型的积累,从而维持解除管制的信号传导。
This mutation disrupts the C-terminal PEST domain that in normal conditions promotes degradation, resulting in accumulation of an active NOTCH1 isoform sustaining deregulated signaling.

别名

PRO2514ARGFS
Allele Registry ID:
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
9139390649139390650
Transcript
ENST00000277541.6

基因序列

NC_000009.11:g.139390649_139390650del