No paralogue variants have been mapped to residue 428 for KCNH2.
| KCNH2 | TILHYSPFKA-VWDWLILLLVIYTAVFTPY>S<AAFLLKETEEGPPATECGYACQPLAVVDLI | 458 |
| KCNH1 | IILHYCVFKT-TWDWIILILTFYTAILVPY>N<VSFKTRQN------------NVAWLVVDSI | 256 |
| KCNH3 | ILLHCGALRA-TWDGFILLATLYVAVTVPY>S<VCVSTARE--------PSAARGPPSVCDLA | 267 |
| KCNH4 | LLLHYSVSKA-IWDGLILLATFYVAVTVPY>N<VCFSGDDD--------TPITSRHTLVSDIA | 269 |
| KCNH5 | IILHYCAFKT-TWDWVILILTFYTAIMVPY>N<VSFKTKQN------------NIAWLVLDSV | 253 |
| KCNH6 | TILHYSPFKA-VWDWLILLLVIYTAVFTPY>S<AAFLLSDQDE-SRRGACSYTCSPLTVVDLI | 306 |
| KCNH7 | TILHYSPFKA-VWDWLILLLVIYTAIFTPY>S<AAFLLNDREE-QKRRECGYSCSPLNVVDLI | 457 |
| KCNH8 | ILLHFSTFKA-GWDWLILLATFYVAVTVPY>N<VCFIGNDD--------LS-TTRSTTVSDIA | 263 |
| CNGA1 | VIDPSGNTYY-NWLFCITLPVMYNWTMVIA>R<ACFDELQS----------DYLEYWLILDYV | 206 |
| CNGA2 | VLDPAGDWYY-CWLFVIAMPVLYNWCLLVA>R<ACFSDLQK----------GYYLVWLVLDYV | 181 |
| CNGA3 | VVDPSSNLYY-RWLTAIALPVFYNWYLLIC>R<ACFDELQS----------EYLMLWLVLDYS | 209 |
| CNGA4 | VLDPSGDYYY-WWLNTMVFPVMYNLIILVC>R<ACFPDLQH----------GYLVAWLVLDYT | 75 |
| CNGB1 | SIDPLTNLMYVLWLFFVVMAWNWNCWLIPV>R<WAFPYQTP----------DNIHHWLLMDYL | 697 |
| CNGB3 | SIDSYTDRLYLLWLLLVTLAYNWNCCFIPL>R<LVFPYQTA----------DNIHYWLIADII | 259 |
| HCN1 | IIHPYSDFRF-YWDLIMLIMMVGNLVIIPV>G<ITFFTEQT------------TTPWIIFNVA | 181 |
| HCN2 | IIHPYSDFRF-YWDFTMLLFMVGNLIIIPV>G<ITFFKDET------------TAPWIVFNVV | 250 |
| HCN3 | IIHPYSDFRF-YWDLIMLLLMVGNLIVLPV>G<ITFFKEEN------------SPPWIVFNVL | 132 |
| HCN4 | IIHPYSDFRF-YWDLTMLLLMVGNLIIIPV>G<ITFFKDEN------------TTPWIVFNVV | 301 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S428L | c.1283C>T | Inherited Arrhythmia | LQTS | rs199472899 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117 | ||
| Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | |||
| p.S428P | c.1282T>C | 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 | ||