No paralogue variants have been mapped to residue 448 for KCNH2.
| KCNH2 | VIYTAVFTPYSAAFLLKETEEGPPATECGY>A<CQPLAVVDLIVDIMFIVDI-LINFRTTYVN | 477 |
| KCNH1 | TFYTAILVPYNVSFKTRQN----------->-<NVAWLVVDSIVDVIFLVDI-VLNFHTTFVG | 275 |
| KCNH3 | TLYVAVTVPYSVCVSTARE--------PSA>A<RGPPSVCDLAVEVLFILDI-VLNFRTTFVS | 286 |
| KCNH4 | TFYVAVTVPYNVCFSGDDD--------TPI>T<SRHTLVSDIAVEMLFILDI-ILNFRTTYVS | 288 |
| KCNH5 | TFYTAIMVPYNVSFKTKQN----------->-<NIAWLVLDSVVDVIFLVDI-VLNFHTTFVG | 272 |
| KCNH6 | VIYTAVFTPYSAAFLLSDQDE-SRRGACSY>T<CSPLTVVDLIVDIMFVVDI-VINFRTTYVN | 325 |
| KCNH7 | VIYTAIFTPYSAAFLLNDREE-QKRRECGY>S<CSPLNVVDLIVDIMFIIDI-LINFRTTYVN | 476 |
| KCNH8 | TFYVAVTVPYNVCFIGNDD--------LS->T<TRSTTVSDIAVEILFIIDI-ILNFRTTYVS | 282 |
| CNGA1 | VMYNWTMVIARACFDELQS----------D>Y<LEYWLILDYVSDIVYLIDM-FVRTRTGYLE | 225 |
| CNGA2 | VLYNWCLLVARACFSDLQK----------G>Y<YLVWLVLDYVSDVVYIADL-FIRLRTGFLE | 200 |
| CNGA3 | VFYNWYLLICRACFDELQS----------E>Y<LMLWLVLDYSADVLYVLDV-LVRARTGFLE | 228 |
| CNGA4 | VMYNLIILVCRACFPDLQH----------G>Y<LVAWLVLDYTSDLLYLLDM-VVRFHTGFLE | 94 |
| CNGB1 | WNWNCWLIPVRWAFPYQTP----------D>N<IHHWLLMDYLCDLIYFLDITVFQTRLQFVR | 717 |
| CNGB3 | YNWNCCFIPLRLVFPYQTA----------D>N<IHYWLIADIICDIIYLYDMLFIQPRLQFVR | 279 |
| HCN1 | MVGNLVIIPVGITFFTEQT----------->-<TTPWIIFNVASDTVFLLDL-IMNFRTGTVN | 200 |
| HCN2 | MVGNLIIIPVGITFFKDET----------->-<TAPWIVFNVVSDTFFLMDL-VLNFRTGIVI | 269 |
| HCN3 | MVGNLIVLPVGITFFKEEN----------->-<SPPWIVFNVLSDTFFLLDL-VLNFRTGIVV | 151 |
| HCN4 | MVGNLIIIPVGITFFKDEN----------->-<TTPWIVFNVVSDTFFLIDL-VLNFRTGIVV | 320 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A448T | c.1342G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing. J Electrocardiol. 2012 22727609 | ||
| p.A448S | c.1342G>T | Putative Benign | SIFT: Polyphen: | ||