U2AF1 Q157P/R

u2af1 q157p/r是急性髓性白血病(AML)、骨髓增生异常综合征(MDS)和肺腺癌的复发性突变。这种突变比S34F突变更不常见,发生在u2af1的第二个锌指区域,并且已经证明可以改变剪接。u2af1突变对MDS总生存率的影响一直存在争议,然而,u2af1突变的患者被证明具有向继发性AML转化的风险增加。与u2af1野生型患者相比,这种突变的存在与AML的特定预后无关。
U2AF1 Q157P/R has been shown to be a recurrent mutation in acute myeloid leukemia (AML), myelodysplastic syndromes (MDS) and lung adenocarcinomas. This mutation is less common than the S34F mutation, occurs in the second zinc finger domain of U2AF1 and has been demonstrated to alter splicing. The impact of U2AF1 mutations on overall survival in MDS has been debated, however, patients with U2AF1 mutations were shown to be at an increased risk of transformation to secondary AML. The presence of this mutation was not associated with a specific prognostic outcome in AML when compared to U2AF1 wildtype patients.

别名


Allele Registry ID:
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
214451477744514777TG
Transcript
ENST00000291552.4

基因序列

NC_000021.8:g.44514777T>003eG