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 |