No paralogue variants have been mapped to residue 912 for KCNH2.
KCNH2 | LSFRRRTDKDT--EQ-----PGEVSALGPG>R<AGAGPSSRGRPGG---P--WGESPSSGPSS | 937 |
KCNH1 | LILPPDHPVRRLFQRF-----RQQKEARL->A<AERGGRDLDDLDV---E--KGNVLTEHASA | 778 |
KCNH3 | --D--NTLMSTLEEKE-----TDGEQG--->P<-TVSPAPADEPSS---P--LLSPGCTSSSS | 763 |
KCNH4 | LGSSSDKTLPSITEAE-----SGAEPGGGP>R<PR-RPLLLPNLSP---A--RPR--GSLVSL | 761 |
KCNH5 | LSIPVDHPVRKLFQKF-----KQQKELRNQ>G<STQGDPERNQLQV---E--SRSLQNGASIT | 748 |
KCNH6 | FLSDNQSGSPH--ELGPQFPSKGYSLLGPG>S<QNSMG------AG---P--CAPG-HPDAAP | 784 |
KCNH7 | LSFESEGEKE-------------NSTNDPE>D<SADTIRHYQSSKR---H--FEEKKSRSSSF | 937 |
KCNH8 | NGN-INKRLPSIVEDE-----EEEEEGEEE>E<AVSLSPICTRGSS---S--RNKKVGSNKAY | 748 |
CNGA1 | -GSVDLLQTRFARILA-----EYESMQQKL>K<QRLTKVEKFLKP-----LIDTEFSSIEGPG | 681 |
CNGA2 | -TNMETLYTRFGRLLA-----EYTGAQQKL>K<QRITVLETKMKQ-----NNEDDYLSDGMNS | 655 |
CNGA3 | -SSLDTLQTRFARLLA-----EYNATQMKM>K<QRLSQLESQVKG-----GG-DKPLADGEVP | 683 |
CNGA4 | -QQLDDLQTKFARLLA-----ELESSALKI>A<YRIERLEWQTREW---PMPEDLAEADDEGE | 553 |
CNGB1 | LAMTGKMGGKGAKGGK-----LAHLRARLK>E<LAALEAAAKQQEL---V--EQAKSSQDVKG | 1163 |
CNGB3 | LGGTGKASL-----------------ARLL>K<LKREQAAQKKENSEGGE--EEGKENEDKQK | 721 |
HCN1 | ENEILKQIVKHDREMV-----QAIAPINYP>Q<MTTLNSTSSTTTP---T--SRMRTQSPPVY | 668 |
HCN2 | ENAIIQEIVKYDREMV-----QQAELGQRV>G<LFPPPPPPPQVTS---A--IATLQQAAAMS | 737 |
HCN3 | GGIMEQHLVQHDRDMA-----RGVRGRAPS>T<GAQLSGKPVLWEP---L--VHAPLQAAAVT | 617 |
HCN4 | ENEIIQQIVQHDREMA-----HCAHRVQAA>A<SATPTPTPVIWTP---L--IQAPLQAAAAT | 788 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R912W | c.2734C>T | Putative Benign | SIFT: deleterious Polyphen: possibly damaging |