基因突变信息:c.740C>T(p.Ser247Leu)  

KCNQ2病友社:病例2例

突变来源:新发突变


PolyPhen-2 report for O43526 S247L
Protein Acc:O43526  Position:247  AA1:S AA2:L 
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 POSSIBLY DAMAGING with a score of 0.678 (sensitivity: 0.86; specificity: 0.92)

Confidence

This mutation is predicted to be BENIGN with a score of 0.298 (sensitivity: 0.86; specificity: 0.77)

Confidence


KCNQ2突变数据库资料:

预后评级为:暂无


2018年3月随访:发育里程碑落后。

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