No paralogue variants have been mapped to residue 438 for KCNH2.
KCNH2 | -VWDWLILLLVIYTAVFTPYSAAFLLKETE>E<GPPATECGYACQPLAVVDLIVDIMFIVDI- | 467 |
KCNH1 | -TWDWIILILTFYTAILVPYNVSFKTRQN->-<----------NVAWLVVDSIVDVIFLVDI- | 265 |
KCNH3 | -TWDGFILLATLYVAVTVPYSVCVSTARE->-<------PSAARGPPSVCDLAVEVLFILDI- | 276 |
KCNH4 | -IWDGLILLATFYVAVTVPYNVCFSGDDD->-<------TPITSRHTLVSDIAVEMLFILDI- | 278 |
KCNH5 | -TWDWVILILTFYTAIMVPYNVSFKTKQN->-<----------NIAWLVLDSVVDVIFLVDI- | 262 |
KCNH6 | -VWDWLILLLVIYTAVFTPYSAAFLLSDQD>E<-SRRGACSYTCSPLTVVDLIVDIMFVVDI- | 315 |
KCNH7 | -VWDWLILLLVIYTAIFTPYSAAFLLNDRE>E<-QKRRECGYSCSPLNVVDLIVDIMFIIDI- | 466 |
KCNH8 | -GWDWLILLATFYVAVTVPYNVCFIGNDD->-<------LS-TTRSTTVSDIAVEILFIIDI- | 272 |
CNGA1 | -NWLFCITLPVMYNWTMVIARACFDELQS->-<--------DYLEYWLILDYVSDIVYLIDM- | 215 |
CNGA2 | -CWLFVIAMPVLYNWCLLVARACFSDLQK->-<--------GYYLVWLVLDYVSDVVYIADL- | 190 |
CNGA3 | -RWLTAIALPVFYNWYLLICRACFDELQS->-<--------EYLMLWLVLDYSADVLYVLDV- | 218 |
CNGA4 | -WWLNTMVFPVMYNLIILVCRACFPDLQH->-<--------GYLVAWLVLDYTSDLLYLLDM- | 84 |
CNGB1 | VLWLFFVVMAWNWNCWLIPVRWAFPYQTP->-<--------DNIHHWLLMDYLCDLIYFLDIT | 707 |
CNGB3 | LLWLLLVTLAYNWNCCFIPLRLVFPYQTA->-<--------DNIHYWLIADIICDIIYLYDML | 269 |
HCN1 | -YWDLIMLIMMVGNLVIIPVGITFFTEQT->-<----------TTPWIIFNVASDTVFLLDL- | 190 |
HCN2 | -YWDFTMLLFMVGNLIIIPVGITFFKDET->-<----------TAPWIVFNVVSDTFFLMDL- | 259 |
HCN3 | -YWDLIMLLLMVGNLIVLPVGITFFKEEN->-<----------SPPWIVFNVLSDTFFLLDL- | 141 |
HCN4 | -YWDLTMLLLMVGNLIIIPVGITFFKDEN->-<----------TTPWIVFNVVSDTFFLIDL- | 310 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E438K | c.1312G>A | Putative Benign | SIFT: Polyphen: |