go to: synopsis - KCNH2 mutations in LQT2 -

OMIM: 609621

Nucleotide references:152427 ; Gene ID 3757; Locus link: 3757; Unigene: 188021

Nucleotide numbering starts from ATG

Nucleotide Change	Aminoacid Change		Mutation Type	Region	Phenotype	Reference
C1764A / C1764G(1)	N588K(2)		Missense	S5-pore	SQTS	Brugada et al. 2003; Hong et al 2005 (3)

(1) two families with different nucleotide substitutions leading to the samecoding effect; (2) This codon is also affected by a LQT2 mutation (see here); (3) Different kindrend from that reported by the same group in 2003