No paralogue variants have been mapped to residue 685 for KCNH2.
| KCNH2 | IFGNVSAIIQRLYSGTARYHTQMLRVREFI>R<FHQIPNPLRQRLEEYFQHAWSYTNGIDMNA | 715 |
| KCNH1 | IFGNVTTIFQQMYANTNRYHEMLNSVRDFL>K<LYQVPKGLSERVMDYIVSTWSMSRGIDTEK | 554 |
| KCNH3 | VFGNVTAIIQRMYARRFLYHSRTRDLRDYI>R<IHRIPKPLKQRMLEYFQATWAVNNGIDTTE | 556 |
| KCNH4 | VFGNVTAIIQRMYSRRSLYHSRMKDLKDFI>R<VHRLPRPLKQRMLEYFQTTWAVNSGIDANE | 530 |
| KCNH5 | IFGNVTTIFQQMYANTNRYHEMLNNVRDFL>K<LYQVPKGLSERVMDYIVSTWSMSKGIDTEK | 523 |
| KCNH6 | IFGNVSAIIQRLYSGTARYHTQMLRVKEFI>R<FHQIPNPLRQRLEEYFQHAWSYTNGIDMNA | 567 |
| KCNH7 | IFGNVSAIIQRLYSGTARYHMQMLRVKEFI>R<FHQIPNPLRQRLEEYFQHAWTYTNGIDMNM | 718 |
| KCNH8 | VFGNVTAIIQRMYSRWSLYHTRTKDLKDFI>R<VHHLPQQLKQRMLEYFQTTWSVNNGIDSNE | 525 |
| CNGA1 | IVGNIGSMISNMNAARAEFQARIDAIKQYM>H<FRNVSKDMEKRVIKWFDYLWTNKKTVDEKE | 452 |
| CNGA2 | IVGNVGSMISNMNATRAEFQAKIDAVKHYM>Q<FRKVSKGMEAKVIRWFDYLWTNKKTVDERE | 427 |
| CNGA3 | IVGNVGSMISNMNASRAEFQAKIDSIKQYM>Q<FRKVTKDLETRVIRWFDYLWANKKTVDEKE | 455 |
| CNGA4 | IMGSMSSVIYNMNTADAAFYPDHALVKKYM>K<LQHVNRKLERRVIDWYQHLQINKKMTNEVA | 321 |
| CNGB1 | MIGQMRDVVGAATAGQTYYRSCMDSTVKYM>N<FYKIPKSVQNRVKTWYEYTWHSQGMLDESE | 935 |
| CNGB3 | LIGQMRDVIGAATANQNYFRACMDDTIAYM>N<NYSIPKLVQKRVRTWYEYTWDSQRMLDESD | 497 |
| HCN1 | FVGHATALIQSLDSSRRQYQEKYKQVEQYM>S<FHKLPADMRQKIHDYYEHRYQG-KIFDEEN | 448 |
| HCN2 | FIGHATALIQSLDSSRRQYQEKYKQVEQYM>S<FHKLPADFRQKIHDYYEHRYQG-KMFDEDS | 517 |
| HCN3 | FIGHATALIQSLDSSRRQYQEKYKQVEQYM>S<FHKLPADTRQRIHEYYEHRYQG-KMFDEES | 401 |
| HCN4 | FIGHATALIQSLDSSRRQYQEKYKQVEQYM>S<FHKLPPDTRQRIHDYYEHRYQG-KMFDEES | 568 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R685H | c.2054G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487 | ||
| p.R685C | c.2053C>T | Putative Benign | SIFT: Polyphen: | ||