No paralogue variants have been mapped to residue 694 for KCNH2.
| KCNH2 | QRLYSGTARYHTQMLRVREFIRFHQIPNPL>R<QRLEEYFQHAWSYTNGIDMNAVLKGFPECL | 724 |
| KCNH1 | QQMYANTNRYHEMLNSVRDFLKLYQVPKGL>S<ERVMDYIVSTWSMSRGIDTEKVLQICPKDM | 563 |
| KCNH3 | QRMYARRFLYHSRTRDLRDYIRIHRIPKPL>K<QRMLEYFQATWAVNNGIDTTELLQSLPDEL | 565 |
| KCNH4 | QRMYSRRSLYHSRMKDLKDFIRVHRLPRPL>K<QRMLEYFQTTWAVNSGIDANELLRDFPDEL | 539 |
| KCNH5 | QQMYANTNRYHEMLNNVRDFLKLYQVPKGL>S<ERVMDYIVSTWSMSKGIDTEKVLSICPKDM | 532 |
| KCNH6 | QRLYSGTARYHTQMLRVKEFIRFHQIPNPL>R<QRLEEYFQHAWSYTNGIDMNAVLKGFPECL | 576 |
| KCNH7 | QRLYSGTARYHMQMLRVKEFIRFHQIPNPL>R<QRLEEYFQHAWTYTNGIDMNMVLKGFPECL | 727 |
| KCNH8 | QRMYSRWSLYHTRTKDLKDFIRVHHLPQQL>K<QRMLEYFQTTWSVNNGIDSNELLKDFPDEL | 534 |
| CNGA1 | SNMNAARAEFQARIDAIKQYMHFRNVSKDM>E<KRVIKWFDYLWTNKKTVDEKEVLKYLPDKL | 461 |
| CNGA2 | SNMNATRAEFQAKIDAVKHYMQFRKVSKGM>E<AKVIRWFDYLWTNKKTVDEREILKNLPAKL | 436 |
| CNGA3 | SNMNASRAEFQAKIDSIKQYMQFRKVTKDL>E<TRVIRWFDYLWANKKTVDEKEVLKSLPDKL | 464 |
| CNGA4 | YNMNTADAAFYPDHALVKKYMKLQHVNRKL>E<RRVIDWYQHLQINKKMTNEVAILQHLPERL | 330 |
| CNGB1 | GAATAGQTYYRSCMDSTVKYMNFYKIPKSV>Q<NRVKTWYEYTWHSQGMLDESELMVQLPDKM | 944 |
| CNGB3 | GAATANQNYFRACMDDTIAYMNNYSIPKLV>Q<KRVRTWYEYTWDSQRMLDESDLLKTLPTTV | 506 |
| HCN1 | QSLDSSRRQYQEKYKQVEQYMSFHKLPADM>R<QKIHDYYEHRYQG-KIFDEENILNELNDPL | 457 |
| HCN2 | QSLDSSRRQYQEKYKQVEQYMSFHKLPADF>R<QKIHDYYEHRYQG-KMFDEDSILGELNGPL | 526 |
| HCN3 | QSLDSSRRQYQEKYKQVEQYMSFHKLPADT>R<QRIHEYYEHRYQG-KMFDEESILGELSEPL | 410 |
| HCN4 | QSLDSSRRQYQEKYKQVEQYMSFHKLPPDT>R<QRIHDYYEHRYQG-KMFDEESILGELSEPL | 577 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R694H | c.2081G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Benign premature ventricular complexes from the right ventricular outflow tract triggered polymorphic ventricular tachycardia in a latent type 2 LQTS patient. Intern Med. 2012 51(23):3261-5. 23207121 | ||
| p.R694C | c.2080C>T | Putative Benign | SIFT: Polyphen: | ||