No paralogue variants have been mapped to residue 906 for KCNH2.
| KCNH2 | RQRKRKLSFRRRTDKDT--EQ-----PGEV>S<ALGPGRAGAGPSSRGRPGG---P--WGESP | 931 |
| KCNH1 | RKNEAPLILPPDHPVRRLFQRF-----RQQ>K<EARL-AAERGGRDLDDLDV---E--KGNVL | 772 |
| KCNH3 | G-------D--NTLMSTLEEKE-----TDG>E<QG---P-TVSPAPADEPSS---P--LLSPG | 757 |
| KCNH4 | QPRSESLGSSSDKTLPSITEAE-----SGA>E<PGGGPRPR-RPLLLPNLSP---A--RPR-- | 755 |
| KCNH5 | QKNEVTLSIPVDHPVRKLFQKF-----KQQ>K<ELRNQGSTQGDPERNQLQV---E--SRSLQ | 742 |
| KCNH6 | QDHQGFFLSDNQSGSPH--ELGPQFPSKGY>S<LLGPGSQNSMG------AG---P--CAPG- | 778 |
| KCNH7 | KLRRRKLSFESEGEKE-------------N>S<TNDPEDSADTIRHYQSSKR---H--FEEKK | 931 |
| KCNH8 | QSEPKGNGN-INKRLPSIVEDE-----EEE>E<EGEEEEAVSLSPICTRGSS---S--RNKKV | 742 |
| CNGA1 | VTRME--GSVDLLQTRFARILA-----EYE>S<MQQKLKQRLTKVEKFLKP-----LIDTEFS | 675 |
| CNGA2 | LGQLE--TNMETLYTRFGRLLA-----EYT>G<AQQKLKQRITVLETKMKQ-----NNEDDYL | 649 |
| CNGA3 | VEQLG--SSLDTLQTRFARLLA-----EYN>A<TQMKMKQRLSQLESQVKG-----GG-DKPL | 677 |
| CNGA4 | LRGLD--QQLDDLQTKFARLLA-----ELE>S<SALKIAYRIERLEWQTREW---PMPEDLAE | 547 |
| CNGB1 | FNAA--LAMTGKMGGKGAKGGK-----LAH>L<RARLKELAALEAAAKQQEL---V--EQAKS | 1157 |
| CNGB3 | FKTL--LGGTGKASL--------------->-<-ARLLKLKREQAAQKKENSEGGE--EEGKE | 715 |
| HCN1 | N-Q---ENEILKQIVKHDREMV-----QAI>A<PINYPQMTTLNSTSSTTTP---T--SRMRT | 662 |
| HCN2 | N-Q---ENAIIQEIVKYDREMV-----QQA>E<LGQRVGLFPPPPPPPQVTS---A--IATLQ | 731 |
| HCN3 | S-S---GGIMEQHLVQHDRDMA-----RGV>R<GRAPSTGAQLSGKPVLWEP---L--VHAPL | 611 |
| HCN4 | Y-Q---ENEIIQQIVQHDREMA-----HCA>H<RVQAAASATPTPTPVIWTP---L--IQAPL | 782 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S906L | c.2717C>T | Inherited Arrhythmia | LQTS | rs199473435 | SIFT: deleterious Polyphen: possibly 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 | ||