基因突变信息:c.431G>A(p.Arg144Gln)
KCNQ2病友社:病例1例
突变来源:新生突变
PolyPhen-2 report for O43526 R144Q
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 0.999 (sensitivity: 0.09; specificity: 0.99)
KCNQ2突变数据库资料:
预后评级为:Likely pathogenic,likely epileptic encephalopathy(infantile spasms)
2018年3月随访:发育里程碑落后。
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