No paralogue variants have been mapped to residue 440 for KCNH2.
| KCNH2 | WDWLILLLVIYTAVFTPYSAAFLLKETEEG>P<PATECGYACQPLAVVDLIVDIMFIVDI-LI | 469 |
| KCNH1 | WDWIILILTFYTAILVPYNVSFKTRQN--->-<--------NVAWLVVDSIVDVIFLVDI-VL | 267 |
| KCNH3 | WDGFILLATLYVAVTVPYSVCVSTARE--->-<----PSAARGPPSVCDLAVEVLFILDI-VL | 278 |
| KCNH4 | WDGLILLATFYVAVTVPYNVCFSGDDD--->-<----TPITSRHTLVSDIAVEMLFILDI-IL | 280 |
| KCNH5 | WDWVILILTFYTAIMVPYNVSFKTKQN--->-<--------NIAWLVLDSVVDVIFLVDI-VL | 264 |
| KCNH6 | WDWLILLLVIYTAVFTPYSAAFLLSDQDE->S<RRGACSYTCSPLTVVDLIVDIMFVVDI-VI | 317 |
| KCNH7 | WDWLILLLVIYTAIFTPYSAAFLLNDREE->Q<KRRECGYSCSPLNVVDLIVDIMFIIDI-LI | 468 |
| KCNH8 | WDWLILLATFYVAVTVPYNVCFIGNDD--->-<----LS-TTRSTTVSDIAVEILFIIDI-IL | 274 |
| CNGA1 | WLFCITLPVMYNWTMVIARACFDELQS--->-<------DYLEYWLILDYVSDIVYLIDM-FV | 217 |
| CNGA2 | WLFVIAMPVLYNWCLLVARACFSDLQK--->-<------GYYLVWLVLDYVSDVVYIADL-FI | 192 |
| CNGA3 | WLTAIALPVFYNWYLLICRACFDELQS--->-<------EYLMLWLVLDYSADVLYVLDV-LV | 220 |
| CNGA4 | WLNTMVFPVMYNLIILVCRACFPDLQH--->-<------GYLVAWLVLDYTSDLLYLLDM-VV | 86 |
| CNGB1 | WLFFVVMAWNWNCWLIPVRWAFPYQTP--->-<------DNIHHWLLMDYLCDLIYFLDITVF | 709 |
| CNGB3 | WLLLVTLAYNWNCCFIPLRLVFPYQTA--->-<------DNIHYWLIADIICDIIYLYDMLFI | 271 |
| HCN1 | WDLIMLIMMVGNLVIIPVGITFFTEQT--->-<--------TTPWIIFNVASDTVFLLDL-IM | 192 |
| HCN2 | WDFTMLLFMVGNLIIIPVGITFFKDET--->-<--------TAPWIVFNVVSDTFFLMDL-VL | 261 |
| HCN3 | WDLIMLLLMVGNLIVLPVGITFFKEEN--->-<--------SPPWIVFNVLSDTFFLLDL-VL | 143 |
| HCN4 | WDLTMLLLMVGNLIIIPVGITFFKDEN--->-<--------TTPWIVFNVVSDTFFLIDL-VL | 312 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P440L | c.1319C>T | Inherited Arrhythmia | LQTS | rs199473509 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||