No paralogue variants have been mapped to residue 955 for KCNH2.
| KCNH2 | PSS-------PESSEDEGP---GRSSSPLR>L<VPFSSP-RPPGEPPGGEPLMEDC------- | 977 |
| KCNH1 | ASA-------NHSLVKASV---VTVRESPA>T<PVSFQA-ASTSGVPDHAKLQAPGS------ | 819 |
| KCNH3 | SSSAAKLLSPRRTAPRPRL---GGRGRPGR>A<GALKAE-AGPSAPPRALEG----------- | 806 |
| KCNH4 | VSLLGEELPPFSALVSSPS---LSPSLSPA>L<AGQGHS-ASPHGPPRCSAAWKPPQ------ | 809 |
| KCNH5 | SIT-------GTSVVTVSQ---ITPIQTSL>A<YVKTSE-SLKQNNRDAMELKPNGG------ | 789 |
| KCNH6 | AAP-------PLSISDASG---LWPELLQE>M<PPRHSP-QSPQEDPDCWPLKLGSR------ | 825 |
| KCNH7 | SSF-------ISSIDDEQK---PLFSGIVD>S<SPGIGK-ASGLDFEETVPTSGRMH------ | 978 |
| KCNH8 | KAYLGLSLKQLASGT-VPF---HSPIRVSR>S<NSPKTK-QEIDPPNHNKRKEKNLK------ | 795 |
| CNGA1 | GPG---------AESGPID---S------->-<------------------------------ | 689 |
| CNGA2 | MNS---------PELAAAD---E------->-<------------------------------ | 663 |
| CNGA3 | EVPG-------DATKTEDK---Q------->-<------------------------------ | 693 |
| CNGA4 | EGE---------PEEGTSK---DE------>-<------------------------------ | 562 |
| CNGB1 | VKGE-------EGSAAPDQ----------->H<THPKEA------------------------ | 1179 |
| CNGB3 | KQKE-------NEDKQKEN----------->E<DKGKE------------------------- | 736 |
| HCN1 | PVYT-------ATSLSHSNL-H-------->S<------------------------------ | 680 |
| HCN2 | AMSF-------CPQVARPLVGP-------->-<------------------------------ | 749 |
| HCN3 | AVTS-------NVAIALTHQRG-------->P<------------------------------ | 630 |
| HCN4 | AATT-------SVAIALTHHPRLPAAIFRP>P<PGSGLGNLGAGQTPRHLKRLQSLIPSALGS | 839 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L955V | c.2863C>G | Inherited Arrhythmia | LQTS | rs199473012 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Cellular properties of C-terminal KCNH2 long QT syndrome mutations: description and divergence from clinical phenotypes. Heart Rhythm. 2008 5(8):1159-67. 18675227 | ||