No paralogue variants have been mapped to residue 903 for KCNH2.
| KCNH2 | GFSRQRKRKLSFRRRTDKDT--EQ-----P>G<EVSALGPGRAGAGPSSRGRPGG---P--WG | 928 |
| KCNH1 | RMKRKNEAPLILPPDHPVRRLFQRF----->R<QQKEARL-AAERGGRDLDDLDV---E--KG | 769 |
| KCNH3 | ---G-------D--NTLMSTLEEKE----->T<DGEQG---P-TVSPAPADEPSS---P--LL | 754 |
| KCNH4 | RLSQPRSESLGSSSDKTLPSITEAE----->S<GAEPGGGPRPR-RPLLLPNLSP---A--RP | 754 |
| KCNH5 | RLRQKNEVTLSIPVDHPVRKLFQKF----->K<QQKELRNQGSTQGDPERNQLQV---E--SR | 739 |
| KCNH6 | PGSQDHQGFFLSDNQSGSPH--ELGPQFPS>K<GYSLLGPGSQNSMG------AG---P--CA | 776 |
| KCNH7 | DNCKLRRRKLSFESEGEKE----------->-<-NSTNDPEDSADTIRHYQSSKR---H--FE | 928 |
| KCNH8 | MVSQSEPKGNGN-INKRLPSIVEDE----->E<EEEEGEEEEAVSLSPICTRGSS---S--RN | 739 |
| CNGA1 | ---VTRME--GSVDLLQTRFARILA----->E<YESMQQKLKQRLTKVEKFLKP-----LIDT | 672 |
| CNGA2 | ---LGQLE--TNMETLYTRFGRLLA----->E<YTGAQQKLKQRITVLETKMKQ-----NNED | 646 |
| CNGA3 | ---VEQLG--SSLDTLQTRFARLLA----->E<YNATQMKMKQRLSQLESQVKG-----GG-D | 674 |
| CNGA4 | R--LRGLD--QQLDDLQTKFARLLA----->E<LESSALKIAYRIERLEWQTREW---PMPED | 544 |
| CNGB1 | L--FNAA--LAMTGKMGGKGAKGGK----->L<AHLRARLKELAALEAAAKQQEL---V--EQ | 1154 |
| CNGB3 | L--FKTL--LGGTGKASL------------>-<----ARLLKLKREQAAQKKENSEGGE--EE | 712 |
| HCN1 | VFNN-Q---ENEILKQIVKHDREMV----->Q<AIAPINYPQMTTLNSTSSTTTP---T--SR | 659 |
| HCN2 | VFNN-Q---ENAIIQEIVKYDREMV----->Q<QAELGQRVGLFPPPPPPPQVTS---A--IA | 728 |
| HCN3 | ---S-S---GGIMEQHLVQHDRDMA----->R<GVRGRAPSTGAQLSGKPVLWEP---L--VH | 608 |
| HCN4 | VFNY-Q---ENEIIQQIVQHDREMA----->H<CAHRVQAAASATPTPTPVIWTP---L--IQ | 779 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G903R | c.2707G>A | Inherited Arrhythmia | LQTS | rs199473669 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||