No paralogue variants have been mapped to residue 972 for KCNH2.
| KCNH2 | P---GRSSSPLRLVPFSSP-RPPGEPPGGE>P<LMEDC------------------------- | 977 |
| KCNH1 | V---VTVRESPATPVSFQA-ASTSGVPDHA>K<LQAPGS------------------------ | 819 |
| KCNH3 | L---GGRGRPGRAGALKAE-AGPSAPPRAL>E<G----------------------------- | 806 |
| KCNH4 | S---LSPSLSPALAGQGHS-ASPHGPPRCS>A<AWKPPQ------------------------ | 809 |
| KCNH5 | Q---ITPIQTSLAYVKTSE-SLKQNNRDAM>E<LKPNGG------------------------ | 789 |
| KCNH6 | G---LWPELLQEMPPRHSP-QSPQEDPDCW>P<LKLGSR------------------------ | 825 |
| KCNH7 | K---PLFSGIVDSSPGIGK-ASGLDFEETV>P<TSGRMH------------------------ | 978 |
| KCNH8 | F---HSPIRVSRSNSPKTK-QEIDPPNHNK>R<KEKNLK------------------------ | 795 |
| CNGA1 | D---S------------------------->-<------------------------------ | 689 |
| CNGA2 | D---E------------------------->-<------------------------------ | 663 |
| CNGA3 | K---Q------------------------->-<------------------------------ | 693 |
| CNGA4 | K---DE------------------------>-<------------------------------ | 562 |
| CNGB1 | Q-----------HTHPKEA----------->-<------------------------------ | 1179 |
| CNGB3 | N-----------EDKGKE------------>-<------------------------------ | 736 |
| HCN1 | NL-H--------S----------------->-<------------------------------ | 680 |
| HCN2 | LVGP-------------------------->-<------------------------------ | 749 |
| HCN3 | HQRG--------P----------------->-<------------------------------ | 630 |
| HCN4 | HHPRLPAAIFRPPPGSGLGNLGAGQTPRHL>K<RLQSLIPSALGSASPASSPSQVDTPSSSSF | 857 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P972L | c.2915C>T | Putative Benign | SIFT: tolerated Polyphen: possibly damaging |