No paralogue variants have been mapped to residue 880 for KCNH2.
| KCNH2 | RDTNM-IP-GSP---GSTELE--------G>G<FSRQRKRKLSFRRRTDKDT--EQ-----PG | 903 |
| KCNH1 | RKRIV-FRKISD---VKREEE--------E>R<MKRKNEAPLILPPDHPVRRLFQRF-----R | 745 |
| KCNH3 | GAGGG-SAEVDT-----SSLS--------->-<--G-------D--NTLMSTLEEKE-----T | 733 |
| KCNH4 | RQGSD-TSGLSR-----FSRS--------P>R<LSQPRSESLGSSSDKTLPSITEAE-----S | 730 |
| KCNH5 | RKRII-FRKISD---VKKEEE--------E>R<LRQKNEVTLSIPVDHPVRKLFQKF-----K | 714 |
| KCNH6 | RDAAG-GL-------HSSPRQ--------A>P<GSQDHQGFFLSDNQSGSPH--ELGPQFPSK | 757 |
| KCNH7 | RHESA-KA-DLLRSQSMNDSE--------G>D<NCKLRRRKLSFESEGEKE------------ | 904 |
| KCNH8 | REGHE-SDVISR-----LSNK--------S>M<VSQSEPKGNGN-INKRLPSIVEDE-----E | 714 |
| CNGA1 | LDLNI-ANAGSD---PKDLEE--------K>-<--VTRME--GSVDLLQTRFARILA-----E | 647 |
| CNGA2 | LDENE-VATS-M---EVDVQE--------K>-<--LGQLE--TNMETLYTRFGRLLA-----E | 621 |
| CNGA3 | IDEEL-ARAGAD---PKDLEE--------K>-<--VEQLG--SSLDTLQTRFARLLA-----E | 650 |
| CNGA4 | LDVNA-EAAEIA---LQEATE--------S>R<--LRGLD--QQLDDLQTKFARLLA-----E | 517 |
| CNGB1 | PK------EE-K-----SVLILPPRAGTPK>L<--FNAA--LAMTGKMGGKGAKGGK-----L | 1129 |
| CNGB3 | TA-EATPPRK-D-----LALLFPPKEETPK>L<--FKTL--LGGTGKASL------------- | 688 |
| HCN1 | KNSIL-LQKFQ------KDLNT-------G>V<FNN-Q---ENEILKQIVKHDREMV-----Q | 634 |
| HCN2 | KNSIL-LHKVQ------HDLNS-------G>V<FNN-Q---ENAIIQEIVKYDREMV-----Q | 703 |
| HCN3 | KNSIL-QRKRS------EPSPG-------->-<--S-S---GGIMEQHLVQHDRDMA-----R | 583 |
| HCN4 | KNSIL-LHKVQ------HDLNS-------G>V<FNY-Q---ENEIIQQIVQHDREMA-----H | 754 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G880V | c.2639G>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Genetic analysis, in silico prediction, and family segregation in long QT syndrome. Eur J Hum Genet. 2015 23(1):79-85. doi: 10.1038/ejhg.2014.54. 24667783 | ||