No paralogue variants have been mapped to residue 1016 for KCNH2.
| KCNH2 | ---------------------RQYQELPRC>P<APTP-SLLN----IPL-SSPGRRPRGDV-E | 1039 |
| KCNH1 | ------------------------KSEDWN>K<VSKA-ESME----TLP-E------RTKA-S | 869 |
| KCNH3 | ---------------------PKFSFRVGQ>S<GPE--CSSSPSPGPES-G----LLTVPH-G | 868 |
| KCNH4 | ---------------------PSFRFSRRP>E<LPRP-RSQA----PPT-GTRP-SPELAS-E | 872 |
| KCNH5 | ---------------------HEEKKEDWN>N<VTKA-ESMG----LLS-EDPKSSDSENS-V | 853 |
| KCNH6 | ---------------------QGHASYILE>A<PASN-DLAL----VPI-ASETTSPGPRL-P | 889 |
| KCNH7 | ---------------------SALQRAAWG>I<SET----------------ESDLTYGEV-E | 1032 |
| KCNH8 | ---------------------QTFDFGSER>I<RSEP-RISP-----PLGDPEIGAAVLFI-K | 859 |
| CNGA1 | ------------------------------>-<-T---------------------------- | 690 |
| CNGA2 | ------------------------------>-<-P---------------------------- | 664 |
| CNGA3 | ------------------------------>-<-Q---------------------------- | 694 |
| CNGA4 | ---------------------GRASQEGPP>G<PE---------------------------- | 575 |
| CNGB1 | ---------------------PRTPPEPP->-<-------G------SP-PSSPPPAS----- | 1204 |
| CNGB3 | ---------------------GREPEEKPL>D<RPECTA-S------PI-AVEEEPHS----- | 769 |
| HCN1 | -------QQ-------------VQQSQPPQ>T<QPQQPS-PQPQTPG---S--STPKNEVH-K | 769 |
| HCN2 | -------A-P-------------ASPRAPR>-<----TS--------------PYGGLPAAPL | 803 |
| HCN3 | -------PP----------ARTLHASLSRA>G<RSQ-VSLLG--PP---------P------- | 698 |
| HCN4 | PVGFTPRGGLSPPGHSPGPPRTFPSAPPRA>S<GSH-GSLLL--PPASS-P--PPPQVPQR-R | 1069 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P1016L | c.3047C>T | Putative Benign | rs41313074 | SIFT: tolerated Polyphen: possibly damaging | |
| p.P1016S | c.3046C>T | Putative Benign | rs41307280 | SIFT: tolerated Polyphen: benign |