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 |