基因突变信息:c.553G>A(p.Ala185Thr)
KCNQ2病友社:病例1例
突变来源:新生突变
PolyPhen-2 report for O43526 A185T
Protein Acc:O43526 Position:144 AA1:R AA2:Q
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 1.000 (sensitivity: 0.00; specificity: 1.00)
This mutation is predicted to be PROBABLY DAMAGING with a score of 0.996 (sensitivity: 0.36; specificity: 0.97)
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。
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