Description
p.Thr634Ala (ACC>GCC): c.1900 A>G in exon 7 of the KCNH2 gene (NM_000238.2). The T634A mutation in the KCNH2 gene has been reported in one individual diagnosed with LQTS (Yoshinaga et al., 2013). The T634A mutation is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. This substitution occurs at a position that is conserved across species. A different mutation in the same residue (T634I) and mutations in nearby residues (N633D, N633S, N633I, N635D, N635I, N635K) have been reported in association with LQTS, further supporting the functional importance of this residue and of this region of the protein. Furthermore, the T634A mutation was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, T634A in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
