No paralogue variants have been mapped to residue 889 for KCNH2.
KCNH2 | GSP---GSTELE--------GGFSRQRKRK>L<SFRRRTDKDT--EQ-----PGEVSALGPGR | 912 |
KCNH1 | ISD---VKREEE--------ERMKRKNEAP>L<ILPPDHPVRRLFQRF-----RQQKEARL-A | 753 |
KCNH3 | VDT-----SSLS------------G----->-<-D--NTLMSTLEEKE-----TDGEQG---P | 739 |
KCNH4 | LSR-----FSRS--------PRLSQPRSES>L<GSSSDKTLPSITEAE-----SGAEPGGGPR | 739 |
KCNH5 | ISD---VKKEEE--------ERLRQKNEVT>L<SIPVDHPVRKLFQKF-----KQQKELRNQG | 723 |
KCNH6 | ------HSSPRQ--------APGSQDHQGF>F<LSDNQSGSPH--ELGPQFPSKGYSLLGPGS | 766 |
KCNH7 | DLLRSQSMNDSE--------GDNCKLRRRK>L<SFESEGEKE-------------NSTNDPED | 912 |
KCNH8 | ISR-----LSNK--------SMVSQSEPKG>N<GN-INKRLPSIVEDE-----EEEEEGEEEE | 723 |
CNGA1 | GSD---PKDLEE--------K---VTRME->-<GSVDLLQTRFARILA-----EYESMQQKLK | 656 |
CNGA2 | S-M---EVDVQE--------K---LGQLE->-<TNMETLYTRFGRLLA-----EYTGAQQKLK | 630 |
CNGA3 | GAD---PKDLEE--------K---VEQLG->-<SSLDTLQTRFARLLA-----EYNATQMKMK | 659 |
CNGA4 | EIA---LQEATE--------SR--LRGLD->-<QQLDDLQTKFARLLA-----ELESSALKIA | 526 |
CNGB1 | E-K-----SVLILPPRAGTPKL--FNAA-->L<AMTGKMGGKGAKGGK-----LAHLRARLKE | 1138 |
CNGB3 | K-D-----LALLFPPKEETPKL--FKTL-->L<GGTGKASL-----------------ARLLK | 693 |
HCN1 | FQ------KDLNT-------GVFNN-Q--->E<NEILKQIVKHDREMV-----QAIAPINYPQ | 643 |
HCN2 | VQ------HDLNS-------GVFNN-Q--->E<NAIIQEIVKYDREMV-----QQAELGQRVG | 712 |
HCN3 | RS------EPSPG-----------S-S--->G<GIMEQHLVQHDRDMA-----RGVRGRAPST | 592 |
HCN4 | VQ------HDLNS-------GVFNY-Q--->E<NEIIQQIVQHDREMA-----HCAHRVQAAA | 763 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L889V | c.2665T>G | Putative Benign | SIFT: Polyphen: | ||
p.L889M | c.2665T>A | Putative Benign | SIFT: Polyphen: |