No paralogue variants have been mapped to residue 841 for KCNH2.
| KCNH2 | P----GKSNGDVRALTYCDLHKIHRDDLLE>V<LDMYPEFSDHFWSSL--EIT-FNLRDTNM- | 867 |
| KCNH1 | L----AQSCANVRALTYCDLHVIKRDALQK>V<LEFYTAFSHSFSRNL--ILT-YNLRKRIV- | 706 |
| KCNH3 | V----VKANADVKGLTYCVLQCLQLAGLHD>S<LALYPEFAPRFSRGLRGELS-YNLGAGGG- | 709 |
| KCNH4 | DPNFVLKTSADVKALTYCGLQQLSSRGLAE>V<LRLYPEYGAAFRAGLPRDLT-FNLRQGSD- | 693 |
| KCNH5 | L----AHACANVRALTYCDLHIIKREALLK>V<LDFYTAFANSFSRNL--TLT-CNLRKRII- | 675 |
| KCNH6 | P----GKSSADVRALTYCDLHKIQRADLLE>V<LDMYPAFAESFWSKL--EVT-FNLRDAAG- | 719 |
| KCNH7 | P----GKSNADVRALTYCDLHKIQREDLLE>V<LDMYPEFSDHFLTNL--ELT-FNLRHESA- | 870 |
| KCNH8 | V----IKTNADVKALTYCDLQCIILKGLFE>V<LDLYPEYAHKFVEDIQHDLT-YNLREGHE- | 678 |
| CNGA1 | G----NRRTANIKSIGYSDLFCLSKDDLME>A<LTEYPDAKTMLEEKGKQILMKDGLLDLNI- | 613 |
| CNGA2 | G----NRRTANIRSLGYSDLFCLSKDDLME>A<VTEYPDAKKVLEERGREILMKEGLLDENE- | 588 |
| CNGA3 | G----NRRTANIRSIGYSDLFCLSKDDLME>A<LTEYPEAKKALEEKGRQILMKDNLIDEEL- | 616 |
| CNGA4 | G----NRRTANIKSLGYSDLFCLSKEDLRE>V<LSEYPQAQTIMEEKGREILLKMNKLDVNA- | 482 |
| CNGB1 | G----NRRTANVVAHGFTNLFILDKKDLNE>I<LVHYPESQKLLRKKARRMLRSNNKPK---- | 1091 |
| CNGB3 | G----NRRTANVVAHGFANLLTLDKKTLQE>I<LVHYPDSERILMKKARVLLKQKAKTA-EAT | 656 |
| HCN1 | ------RRTASVRADTYCRLYSLSVDNFNE>V<LEEYPMMRRAFETVAIDRLDRIGKKNSIL- | 601 |
| HCN2 | ------RRTASVRADTYCRLYSLSVDNFNE>V<LEEYPMMRRAFETVAIDRLDRIGKKNSIL- | 670 |
| HCN3 | ------RRTASVRADTYCRLYSLSVDHFNA>V<LEEFPMMRRAFETVAMDRLLRIGKKNSIL- | 554 |
| HCN4 | ------RRTASVRADTYCRLYSLSVDNFNE>V<LEEYPMMRRAFETVALDRLDRIGKKNSIL- | 721 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V841L | c.2521G>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol. 2012 60(24):2515-24. doi: 10.1016/j.jacc.2012.08.1009. 23158531 | ||