No paralogue variants have been mapped to residue 879 for KCNH2.
| KCNH2 | LRDTNM-IP-GSP---GSTELE-------->G<GFSRQRKRKLSFRRRTDKDT--EQ-----P | 902 |
| KCNH1 | LRKRIV-FRKISD---VKREEE-------->E<RMKRKNEAPLILPPDHPVRRLFQRF----- | 744 |
| KCNH3 | LGAGGG-SAEVDT-----SSLS-------->-<---G-------D--NTLMSTLEEKE----- | 732 |
| KCNH4 | LRQGSD-TSGLSR-----FSRS-------->P<RLSQPRSESLGSSSDKTLPSITEAE----- | 729 |
| KCNH5 | LRKRII-FRKISD---VKKEEE-------->E<RLRQKNEVTLSIPVDHPVRKLFQKF----- | 713 |
| KCNH6 | LRDAAG-GL-------HSSPRQ-------->A<PGSQDHQGFFLSDNQSGSPH--ELGPQFPS | 756 |
| KCNH7 | LRHESA-KA-DLLRSQSMNDSE-------->G<DNCKLRRRKLSFESEGEKE----------- | 904 |
| KCNH8 | LREGHE-SDVISR-----LSNK-------->S<MVSQSEPKGNGN-INKRLPSIVEDE----- | 713 |
| CNGA1 | LLDLNI-ANAGSD---PKDLEE-------->K<---VTRME--GSVDLLQTRFARILA----- | 646 |
| CNGA2 | LLDENE-VATS-M---EVDVQE-------->K<---LGQLE--TNMETLYTRFGRLLA----- | 620 |
| CNGA3 | LIDEEL-ARAGAD---PKDLEE-------->K<---VEQLG--SSLDTLQTRFARLLA----- | 649 |
| CNGA4 | KLDVNA-EAAEIA---LQEATE-------->S<R--LRGLD--QQLDDLQTKFARLLA----- | 516 |
| CNGB1 | KPK------EE-K-----SVLILPPRAGTP>K<L--FNAA--LAMTGKMGGKGAKGGK----- | 1128 |
| CNGB3 | KTA-EATPPRK-D-----LALLFPPKEETP>K<L--FKTL--LGGTGKASL------------ | 688 |
| HCN1 | KKNSIL-LQKFQ------KDLNT------->G<VFNN-Q---ENEILKQIVKHDREMV----- | 633 |
| HCN2 | KKNSIL-LHKVQ------HDLNS------->G<VFNN-Q---ENAIIQEIVKYDREMV----- | 702 |
| HCN3 | KKNSIL-QRKRS------EPSPG------->-<---S-S---GGIMEQHLVQHDRDMA----- | 582 |
| HCN4 | KKNSIL-LHKVQ------HDLNS------->G<VFNY-Q---ENEIIQQIVQHDREMA----- | 753 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G879R | c.2635G>C | Inherited Arrhythmia | LQTS | rs199473040 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome. Clin Chim Acta. 2011 412(1-2):203-7. 20851114 | ||