基因突变信息:c.1637T>C(p.Met546Thr)
KCNQ2病友社:病例1例
突变来源:新生突变
PolyPhen-2 report for O43526 M546T
Protein Acc:O43526 Position:546 AA1:M AA2:T
Description:Canonical; RecName: Full=Potassium voltage-gated channel subfamily KQT member 2; AltName: Full=KQT-like 2; AltName: Full=Neuroblastoma-specific potassium channel subunit alpha KvLQT2; AltName: Full=Voltage-gated potassium channel subunit Kv7.2; Length: 872
Results Prediction/Confidence
This mutation is predicted to be PROBABLY DAMAGING with a score of 0.998 (sensitivity: 0.27; specificity: 0.99)
This mutation is predicted to be PROBABLY DAMAGING with a score of 0.993 (sensitivity: 0.47; specificity: 0.96)
KCNQ2突变数据库资料:
预后评级为:暂无
2018年3月随访:发育里程碑正常。
可通过加入KCNQ2病友社,了解该点位突变具体药物治疗及相关预后情况。