Long QT mutation carriers’ descriptives.
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*ECGs with the longest QTc-interval.
1KCNH2 c.3140G>T heterozygous p.Arg1047Leu. Uncertain pathogenic, known mutation.
2SCN5A c.6010T>C heterozygous p.Phe2004Leu. Uncertain pathogenic, known mutation.
3SCN5A c.5872C>T heterozygous p.Arg1958X. Definitely pathogenic, Stop codon mutation.
4KCNH2 c.2738C>T heterozygous p.Ala913Val. Definitely pathogenic.
5KCNE2 c.161T>C heterozygous p.Met54Thr. Likely pathogenic.
A question mark indicates that no information was available. ms = milliseconds, bpm = beats per minute. HRT = Hormone replacement therapy.
The in silico analysis was perfomed by the use of Alamut software (Interactive Biosoftware, ver 2.1, Mont-Saint-Aignan, France, http://www.interactive-biosoftware.com/) taking into account results from Polyphen-2, SIFT, Grantham score, and the nucleotide and aminoacid conservation.
创建时间：
2013-07-25
