No paralogue variants have been mapped to residue 662 for KCNH2.
| KCNH2 | PNTNSEKIFSICVMLIGSLMYASIFGNVSA>I<IQRLYSGTARYHTQMLRVREFIRFHQIPNP | 692 |
| KCNH1 | PSTDIEKIFAVAIMMIGSLLYATIFGNVTT>I<FQQMYANTNRYHEMLNSVRDFLKLYQVPKG | 531 |
| KCNH3 | ANTDTEKIFSICTMLIGALMHAVVFGNVTA>I<IQRMYARRFLYHSRTRDLRDYIRIHRIPKP | 533 |
| KCNH4 | ANTDAEKIFSICTMLIGALMHAVVFGNVTA>I<IQRMYSRRSLYHSRMKDLKDFIRVHRLPRP | 507 |
| KCNH5 | PTTDVEKMFSVAMMMVGSLLYATIFGNVTT>I<FQQMYANTNRYHEMLNNVRDFLKLYQVPKG | 500 |
| KCNH6 | PNTNSEKVFSICVMLIGSLMYASIFGNVSA>I<IQRLYSGTARYHTQMLRVKEFIRFHQIPNP | 544 |
| KCNH7 | PNTNSEKIFSICVMLIGSLMYASIFGNVSA>I<IQRLYSGTARYHMQMLRVKEFIRFHQIPNP | 695 |
| KCNH8 | ANTDAEKIFSICTMLIGALMHALVFGNVTA>I<IQRMYSRWSLYHTRTKDLKDFIRVHHLPQQ | 502 |
| CNGA1 | PVRDSEYVFVVVDFLIGVLIFATIVGNIGS>M<ISNMNAARAEFQARIDAIKQYMHFRNVSKD | 429 |
| CNGA2 | PVKDEEYLFVIFDFLIGVLIFATIVGNVGS>M<ISNMNATRAEFQAKIDAVKHYMQFRKVSKG | 404 |
| CNGA3 | PVKDEEYLFVVVDFLVGVLIFATIVGNVGS>M<ISNMNASRAEFQAKIDSIKQYMQFRKVTKD | 432 |
| CNGA4 | PAREEEYLFMVGDFLLAVMGFATIMGSMSS>V<IYNMNTADAAFYPDHALVKKYMKLQHVNRK | 298 |
| CNGB1 | PKTLFEIVFQLLNYFTGVFAFSVMIGQMRD>V<VGAATAGQTYYRSCMDSTVKYMNFYKIPKS | 912 |
| CNGB3 | PQTLFEIVFQLLNFFSGVFVFSSLIGQMRD>V<IGAATANQNYFRACMDDTIAYMNNYSIPKL | 474 |
| HCN1 | PVSMSDLWITMLSMIVGATCYAMFVGHATA>L<IQSLDSSRRQYQEKYKQVEQYMSFHKLPAD | 426 |
| HCN2 | PESMTDIWLTMLSMIVGATCYAMFIGHATA>L<IQSLDSSRRQYQEKYKQVEQYMSFHKLPAD | 495 |
| HCN3 | PVGMPDVWLTMLSMIVGATCYAMFIGHATA>L<IQSLDSSRRQYQEKYKQVEQYMSFHKLPAD | 379 |
| HCN4 | PVGMSDVWLTMLSMIVGATCYAMFIGHATA>L<IQSLDSSRRQYQEKYKQVEQYMSFHKLPPD | 546 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I662T | c.1985T>C | Inherited Arrhythmia | LQTS | rs199472980 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||