No paralogue variants have been mapped to residue 927 for KCNH2.
| KCNH2 | PGEVSALGPGRAGAGPSSRGRPGG---P-->W<GESPSSGPSS-------PESSEDEGP---G | 947 |
| KCNH1 | -RQQKEARL-AAERGGRDLDDLDV---E-->K<GNVLTEHASA-------NHSLVKASV---V | 788 |
| KCNH3 | -TDGEQG---P-TVSPAPADEPSS---P-->L<LSPGCTSSSSAAKLLSPRRTAPRPRL---G | 780 |
| KCNH4 | -SGAEPGGGPRPR-RPLLLPNLSP---A-->R<PR--GSLVSLLGEELPPFSALVSSPS---L | 778 |
| KCNH5 | -KQQKELRNQGSTQGDPERNQLQV---E-->S<RSLQNGASIT-------GTSVVTVSQ---I | 758 |
| KCNH6 | SKGYSLLGPGSQNSMG------AG---P-->C<APG-HPDAAP-------PLSISDASG---L | 794 |
| KCNH7 | ---NSTNDPEDSADTIRHYQSSKR---H-->F<EEKKSRSSSF-------ISSIDDEQK---P | 947 |
| KCNH8 | -EEEEEGEEEEAVSLSPICTRGSS---S-->R<NKKVGSNKAYLGLSLKQLASGT-VPF---H | 764 |
| CNGA1 | -EYESMQQKLKQRLTKVEKFLKP-----LI>D<TEFSSIEGPG---------AESGPID---S | 689 |
| CNGA2 | -EYTGAQQKLKQRITVLETKMKQ-----NN>E<DDYLSDGMNS---------PELAAAD---E | 663 |
| CNGA3 | -EYNATQMKMKQRLSQLESQVKG-----GG>-<DKPLADGEVPG-------DATKTEDK---Q | 693 |
| CNGA4 | -ELESSALKIAYRIERLEWQTREW---PMP>E<DLAEADDEGE---------PEEGTSK---D | 561 |
| CNGB1 | -LAHLRARLKELAALEAAAKQQEL---V-->E<QAKSSQDVKGE-------EGSAAPDQ---- | 1172 |
| CNGB3 | ------ARLLKLKREQAAQKKENSEGGE-->E<EGKENEDKQKE-------NEDKQKEN---- | 730 |
| HCN1 | -QAIAPINYPQMTTLNSTSSTTTP---T-->S<RMRTQSPPVYT-------ATSLSHSNL-H- | 679 |
| HCN2 | -QQAELGQRVGLFPPPPPPPQVTS---A-->I<ATLQQAAAMSF-------CPQVARPLVGP- | 749 |
| HCN3 | -RGVRGRAPSTGAQLSGKPVLWEP---L-->V<HAPLQAAAVTS-------NVAIALTHQRG- | 629 |
| HCN4 | -HCAHRVQAAASATPTPTPVIWTP---L-->I<QAPLQAAAATT-------SVAIALTHHPRL | 801 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.W927G | c.2779T>G | Inherited Arrhythmia | SQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | SQTS | Gain-of-Function KCNH2 Mutations in Patients with Brugada Syndrome. J Cardiovasc Electrophysiol. 2014 25(5):522-30. doi: 10.1111/jce.12361. 24400717 | ||
| p.Trp927Leu | c.2780G>T | Unknown | SIFT: Polyphen: | ||