No paralogue variants have been mapped to residue 858 for KCNH2.
| KCNH2 | LHKIHRDDLLEVLDMYPEFSDHFWSSL--E>I<T-FNLRDTNM-IP-GSP---GSTELE---- | 878 |
| KCNH1 | LHVIKRDALQKVLEFYTAFSHSFSRNL--I>L<T-YNLRKRIV-FRKISD---VKREEE---- | 718 |
| KCNH3 | LQCLQLAGLHDSLALYPEFAPRFSRGLRGE>L<S-YNLGAGGG-SAEVDT-----SSLS---- | 719 |
| KCNH4 | LQQLSSRGLAEVLRLYPEYGAAFRAGLPRD>L<T-FNLRQGSD-TSGLSR-----FSRS---- | 703 |
| KCNH5 | LHIIKREALLKVLDFYTAFANSFSRNL--T>L<T-CNLRKRII-FRKISD---VKKEEE---- | 687 |
| KCNH6 | LHKIQRADLLEVLDMYPAFAESFWSKL--E>V<T-FNLRDAAG-GL-------HSSPRQ---- | 727 |
| KCNH7 | LHKIQREDLLEVLDMYPEFSDHFLTNL--E>L<T-FNLRHESA-KA-DLLRSQSMNDSE---- | 884 |
| KCNH8 | LQCIILKGLFEVLDLYPEYAHKFVEDIQHD>L<T-YNLREGHE-SDVISR-----LSNK---- | 688 |
| CNGA1 | LFCLSKDDLMEALTEYPDAKTMLEEKGKQI>L<MKDGLLDLNI-ANAGSD---PKDLEE---- | 625 |
| CNGA2 | LFCLSKDDLMEAVTEYPDAKKVLEERGREI>L<MKEGLLDENE-VATS-M---EVDVQE---- | 599 |
| CNGA3 | LFCLSKDDLMEALTEYPEAKKALEEKGRQI>L<MKDNLIDEEL-ARAGAD---PKDLEE---- | 628 |
| CNGA4 | LFCLSKEDLREVLSEYPQAQTIMEEKGREI>L<LKMNKLDVNA-EAAEIA---LQEATE---- | 494 |
| CNGB1 | LFILDKKDLNEILVHYPESQKLLRKKARRM>L<RSNNKPK------EE-K-----SVLILPPR | 1102 |
| CNGB3 | LLTLDKKTLQEILVHYPDSERILMKKARVL>L<KQKAKTA-EATPPRK-D-----LALLFPPK | 669 |
| HCN1 | LYSLSVDNFNEVLEEYPMMRRAFETVAIDR>L<DRIGKKNSIL-LQKFQ------KDLNT--- | 611 |
| HCN2 | LYSLSVDNFNEVLEEYPMMRRAFETVAIDR>L<DRIGKKNSIL-LHKVQ------HDLNS--- | 680 |
| HCN3 | LYSLSVDHFNAVLEEFPMMRRAFETVAMDR>L<LRIGKKNSIL-QRKRS------EPSPG--- | 564 |
| HCN4 | LYSLSVDNFNEVLEEYPMMRRAFETVALDR>L<DRIGKKNSIL-LHKVQ------HDLNS--- | 731 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I858T | c.2573T>C | Inherited Arrhythmia | LQTS | rs199473539 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | ||
| p.I858V | c.2572A>G | Putative Benign | SIFT: Polyphen: | ||