No paralogue variants have been mapped to residue 1007 for KCNH2.
| KCNH2 | -R----G----------------------->R<QYQELPRCPAPTP-SLLN----IPL-SSPG | 1031 |
| KCNH1 | -G---------------------------->-<--KSEDWNKVSKA-ESME----TLP-E--- | 864 |
| KCNH3 | -Q---------------------------->P<KFSFRVGQSGPE--CSSSPSPGPES-G--- | 861 |
| KCNH4 | -E----A----------------------->P<SFRFSRRPELPRP-RSQA----PPT-GTRP | 865 |
| KCNH5 | -G----A----------------------->H<EEKKEDWNNVTKA-ESMG----LLS-EDPK | 845 |
| KCNH6 | -M----P----------------------->Q<GHASYILEAPASN-DLAL----VPI-ASET | 881 |
| KCNH7 | -S----P----------------------->S<ALQRAAWGISET----------------ES | 1024 |
| KCNH8 | -E----S----------------------->Q<TFDFGSERIRSEP-RISP-----PLGDPEI | 851 |
| CNGA1 | ------------------------------>-<----------T------------------- | 690 |
| CNGA2 | ------------------------------>-<----------P------------------- | 664 |
| CNGA3 | ------------------------------>-<----------Q------------------- | 694 |
| CNGA4 | ------------------------------>G<RASQEGPPGPE------------------- | 575 |
| CNGB1 | ------------------------------>P<RTPPEPP---------G------SP-PSSP | 1200 |
| CNGB3 | ------------------------------>G<REPEEKPLDRPECTA-S------PI-AVEE | 765 |
| HCN1 | ----------------QQ------------>-<VQQSQPPQTQPQQPS-PQPQTPG---S--S | 761 |
| HCN2 | ----------------A-P----------->-<-ASPRAPR-----TS--------------P | 794 |
| HCN3 | ----------------PP----------AR>T<LHASLSRAGRSQ-VSLLG--PP-------- | 697 |
| HCN4 | VAGASGGASPVGFTPRGGLSPPGHSPGPPR>T<FPSAPPRASGSH-GSLLL--PPASS-P--P | 1061 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1007H | c.3020G>A | Inherited Arrhythmia | LQTS | rs199473542 | SIFT: tolerated Polyphen: benign |
| 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 | ||
| Inherited Arrhythmia | LQTS | End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome. J Cardiovasc Electrophysiol. 2012 23(6):637-42. doi: 10.1111/j.1540-8167.2011.02265. 22429796 | |||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||