No paralogue variants have been mapped to residue 441 for KCNH2.
KCNH2 | DWLILLLVIYTAVFTPYSAAFLLKETEEGP>P<ATECGYACQPLAVVDLIVDIMFIVDI-LIN | 470 |
KCNH1 | DWIILILTFYTAILVPYNVSFKTRQN---->-<-------NVAWLVVDSIVDVIFLVDI-VLN | 268 |
KCNH3 | DGFILLATLYVAVTVPYSVCVSTARE---->-<---PSAARGPPSVCDLAVEVLFILDI-VLN | 279 |
KCNH4 | DGLILLATFYVAVTVPYNVCFSGDDD---->-<---TPITSRHTLVSDIAVEMLFILDI-ILN | 281 |
KCNH5 | DWVILILTFYTAIMVPYNVSFKTKQN---->-<-------NIAWLVLDSVVDVIFLVDI-VLN | 265 |
KCNH6 | DWLILLLVIYTAVFTPYSAAFLLSDQDE-S>R<RGACSYTCSPLTVVDLIVDIMFVVDI-VIN | 318 |
KCNH7 | DWLILLLVIYTAIFTPYSAAFLLNDREE-Q>K<RRECGYSCSPLNVVDLIVDIMFIIDI-LIN | 469 |
KCNH8 | DWLILLATFYVAVTVPYNVCFIGNDD---->-<---LS-TTRSTTVSDIAVEILFIIDI-ILN | 275 |
CNGA1 | LFCITLPVMYNWTMVIARACFDELQS---->-<-----DYLEYWLILDYVSDIVYLIDM-FVR | 218 |
CNGA2 | LFVIAMPVLYNWCLLVARACFSDLQK---->-<-----GYYLVWLVLDYVSDVVYIADL-FIR | 193 |
CNGA3 | LTAIALPVFYNWYLLICRACFDELQS---->-<-----EYLMLWLVLDYSADVLYVLDV-LVR | 221 |
CNGA4 | LNTMVFPVMYNLIILVCRACFPDLQH---->-<-----GYLVAWLVLDYTSDLLYLLDM-VVR | 87 |
CNGB1 | LFFVVMAWNWNCWLIPVRWAFPYQTP---->-<-----DNIHHWLLMDYLCDLIYFLDITVFQ | 710 |
CNGB3 | LLLVTLAYNWNCCFIPLRLVFPYQTA---->-<-----DNIHYWLIADIICDIIYLYDMLFIQ | 272 |
HCN1 | DLIMLIMMVGNLVIIPVGITFFTEQT---->-<-------TTPWIIFNVASDTVFLLDL-IMN | 193 |
HCN2 | DFTMLLFMVGNLIIIPVGITFFKDET---->-<-------TAPWIVFNVVSDTFFLMDL-VLN | 262 |
HCN3 | DLIMLLLMVGNLIVLPVGITFFKEEN---->-<-------SPPWIVFNVLSDTFFLLDL-VLN | 144 |
HCN4 | DLTMLLLMVGNLIIIPVGITFFKDEN---->-<-------TTPWIVFNVVSDTFFLIDL-VLN | 313 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P441R | c.1322C>G | Putative Benign | SIFT: Polyphen: |