No paralogue variants have been mapped to residue 815 for KCNH2.
| KCNH2 | -V--VVAILGKNDIFGEPLNLYAR------>P<----GKSNGDVRALTYCDLHKIHRDDLLEV | 841 |
| KCNH1 | -E--VVAILGKGDVFGDVFWKEAT------>L<----AQSCANVRALTYCDLHVIKRDALQKV | 680 |
| KCNH3 | -T--VLAILGKGDLIGCELPRREQ------>V<----VKANADVKGLTYCVLQCLQLAGLHDS | 681 |
| KCNH4 | -M--VLAILGKGDLIGADIPEPGQEPGLGA>D<PNFVLKTSADVKALTYCGLQQLSSRGLAEV | 665 |
| KCNH5 | -E--VVAILGKGDVFGDIFWKETT------>L<----AHACANVRALTYCDLHIIKREALLKV | 649 |
| KCNH6 | -V--VVAILGKNDIFGEPVSLHAQ------>P<----GKSSADVRALTYCDLHKIQRADLLEV | 693 |
| KCNH7 | -I--VVAILGKNDIFGEMVHLYAK------>P<----GKSNADVRALTYCDLHKIQREDLLEV | 844 |
| KCNH8 | -M--VLAILGKGDLIGANLSIKDQ------>V<----IKTNADVKALTYCDLQCIILKGLFEV | 650 |
| CNGA1 | -GVTQFVVLSDGSYFGEISILNIKGSKA-->G<----NRRTANIKSIGYSDLFCLSKDDLMEA | 584 |
| CNGA2 | -GVTQYALLSAGSCFGEISILNIKGSKM-->G<----NRRTANIRSLGYSDLFCLSKDDLMEA | 559 |
| CNGA3 | -GVTQFVVLSDGSYFGEISILNIKGSKS-->G<----NRRTANIRSIGYSDLFCLSKDDLMEA | 587 |
| CNGA4 | -GITQYAVLGAGLYFGEISIINIKGNMS-->G<----NRRTANIKSLGYSDLFCLSKEDLREV | 453 |
| CNGB1 | KS--VLVTLKAGSVFGEISLLAVGG----->G<----NRRTANVVAHGFTNLFILDKKDLNEI | 1065 |
| CNGB3 | TK--VLVTLKAGSVFGEISLLAAGG----->G<----NRRTANVVAHGFANLLTLDKKTLQEI | 627 |
| HCN1 | -S--KEMKLTDGSYFGEICLLTKG------>-<-----RRTASVRADTYCRLYSLSVDNFNEV | 572 |
| HCN2 | -N--KEMKLSDGSYFGEICLLTRG------>-<-----RRTASVRADTYCRLYSLSVDNFNEV | 641 |
| HCN3 | -A--RDTRLTDGSYFGEICLLTRG------>-<-----RRTASVRADTYCRLYSLSVDHFNAV | 525 |
| HCN4 | -N--KETKLADGSYFGEICLLTRG------>-<-----RRTASVRADTYCRLYSLSVDNFNEV | 692 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P815L | c.2444C>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||