No paralogue variants have been mapped to residue 422 for KCNH2.
| KCNH2 | PRIHRWTILHYSPFKA-VWDWLILLLVIYT>A<VFTPYSAAFLLKETEEGPPATECGYACQPL | 452 |
| KCNH1 | PKTPPHIILHYCVFKT-TWDWIILILTFYT>A<ILVPYNVSFKTRQN------------NVAW | 250 |
| KCNH3 | IRKSPFILLHCGALRA-TWDGFILLATLYV>A<VTVPYSVCVSTARE--------PSAARGPP | 261 |
| KCNH4 | VGGSRCLLLHYSVSKA-IWDGLILLATFYV>A<VTVPYNVCFSGDDD--------TPITSRHT | 263 |
| KCNH5 | PKTPPHIILHYCAFKT-TWDWVILILTFYT>A<IMVPYNVSFKTKQN------------NIAW | 247 |
| KCNH6 | PRIHRWTILHYSPFKA-VWDWLILLLVIYT>A<VFTPYSAAFLLSDQDE-SRRGACSYTCSPL | 300 |
| KCNH7 | PRINKFTILHYSPFKA-VWDWLILLLVIYT>A<IFTPYSAAFLLNDREE-QKRRECGYSCSPL | 451 |
| KCNH8 | AKKSKFILLHFSTFKA-GWDWLILLATFYV>A<VTVPYNVCFIGNDD--------LS-TTRST | 257 |
| CNGA1 | EKKEVVVIDPSGNTYY-NWLFCITLPVMYN>W<TMVIARACFDELQS----------DYLEYW | 200 |
| CNGA2 | KKFELFVLDPAGDWYY-CWLFVIAMPVLYN>W<CLLVARACFSDLQK----------GYYLVW | 175 |
| CNGA3 | KKKDAIVVDPSSNLYY-RWLTAIALPVFYN>W<YLLICRACFDELQS----------EYLMLW | 203 |
| CNGA4 | ARKLLPVLDPSGDYYY-WWLNTMVFPVMYN>L<IILVCRACFPDLQH----------GYLVAW | 69 |
| CNGB1 | KYQFPQSIDPLTNLMYVLWLFFVVMAWNWN>C<WLIPVRWAFPYQTP----------DNIHHW | 691 |
| CNGB3 | RIKLPNSIDSYTDRLYLLWLLLVTLAYNWN>C<CFIPLRLVFPYQTA----------DNIHYW | 253 |
| HCN1 | KTAGFWIIHPYSDFRF-YWDLIMLIMMVGN>L<VIIPVGITFFTEQT------------TTPW | 175 |
| HCN2 | KSAGAWIIHPYSDFRF-YWDFTMLLFMVGN>L<IIIPVGITFFKDET------------TAPW | 244 |
| HCN3 | KSAGAWIIHPYSDFRF-YWDLIMLLLMVGN>L<IVLPVGITFFKEEN------------SPPW | 126 |
| HCN4 | KSAGFWIIHPYSDFRF-YWDLTMLLLMVGN>L<IIIPVGITFFKDEN------------TTPW | 295 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A422T | c.1264G>A | Inherited Arrhythmia | LQTS | rs199472895 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing. J Mol Cell Cardiol. 2004 37(1):79-89. 15242738 | ||
| Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
| Inherited Arrhythmia | LQTS | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | A422T mutation in HERG potassium channel retained in ER is rescurable by pharmacologic or molecular chaperones. Biochem Biophys Res Commun. 2012 422(2):305-10. 22580281 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||