No paralogue variants have been mapped to residue 429 for KCNH2.
| KCNH2 | ILHYSPFKA-VWDWLILLLVIYTAVFTPYS>A<AFLLKETEEGPPATECGYACQPLAVVDLIV | 459 |
| KCNH1 | ILHYCVFKT-TWDWIILILTFYTAILVPYN>V<SFKTRQN------------NVAWLVVDSIV | 257 |
| KCNH3 | LLHCGALRA-TWDGFILLATLYVAVTVPYS>V<CVSTARE--------PSAARGPPSVCDLAV | 268 |
| KCNH4 | LLHYSVSKA-IWDGLILLATFYVAVTVPYN>V<CFSGDDD--------TPITSRHTLVSDIAV | 270 |
| KCNH5 | ILHYCAFKT-TWDWVILILTFYTAIMVPYN>V<SFKTKQN------------NIAWLVLDSVV | 254 |
| KCNH6 | ILHYSPFKA-VWDWLILLLVIYTAVFTPYS>A<AFLLSDQDE-SRRGACSYTCSPLTVVDLIV | 307 |
| KCNH7 | ILHYSPFKA-VWDWLILLLVIYTAIFTPYS>A<AFLLNDREE-QKRRECGYSCSPLNVVDLIV | 458 |
| KCNH8 | LLHFSTFKA-GWDWLILLATFYVAVTVPYN>V<CFIGNDD--------LS-TTRSTTVSDIAV | 264 |
| CNGA1 | IDPSGNTYY-NWLFCITLPVMYNWTMVIAR>A<CFDELQS----------DYLEYWLILDYVS | 207 |
| CNGA2 | LDPAGDWYY-CWLFVIAMPVLYNWCLLVAR>A<CFSDLQK----------GYYLVWLVLDYVS | 182 |
| CNGA3 | VDPSSNLYY-RWLTAIALPVFYNWYLLICR>A<CFDELQS----------EYLMLWLVLDYSA | 210 |
| CNGA4 | LDPSGDYYY-WWLNTMVFPVMYNLIILVCR>A<CFPDLQH----------GYLVAWLVLDYTS | 76 |
| CNGB1 | IDPLTNLMYVLWLFFVVMAWNWNCWLIPVR>W<AFPYQTP----------DNIHHWLLMDYLC | 698 |
| CNGB3 | IDSYTDRLYLLWLLLVTLAYNWNCCFIPLR>L<VFPYQTA----------DNIHYWLIADIIC | 260 |
| HCN1 | IHPYSDFRF-YWDLIMLIMMVGNLVIIPVG>I<TFFTEQT------------TTPWIIFNVAS | 182 |
| HCN2 | IHPYSDFRF-YWDFTMLLFMVGNLIIIPVG>I<TFFKDET------------TAPWIVFNVVS | 251 |
| HCN3 | IHPYSDFRF-YWDLIMLLLMVGNLIVLPVG>I<TFFKEEN------------SPPWIVFNVLS | 133 |
| HCN4 | IHPYSDFRF-YWDLTMLLLMVGNLIIIPVG>I<TFFKDEN------------TTPWIVFNVVS | 302 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A429P | c.1285G>C | Inherited Arrhythmia | LQTS | rs199473508 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures. Can J Cardiol. 2009 25(8):455-62. 19668779 | ||
| p.A429V | c.1286C>T | Putative Benign | SIFT: Polyphen: | ||