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基因突变信息：c.637C>T(p.Arg213Trp)  

KCNQ2病友社：病例2例

突变来源：新生突变


PolyPhen-2 report for O43526 R213W
Protein Acc：O43526  Position：213  AA1：R AA2：W
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)

Confidence

This mutation is predicted to be PROBABLY DAMAGING with a score of 0.998 (sensitivity: 0.18; specificity: 0.98)

Confidence

KCNQ2突变数据库资料：

预后评级为：Pathogenic , likely self-limiting(BFNE)


2018年3月随访：发育里程碑落后。

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。