No paralogue variants have been mapped to residue 466 for KCNH2.
| KCNH2 | TEEGPPATECGYACQPLAVVDLIVDIMFIV>D<I-LINFRTTYVN-ANEEVVSHPGRIAVHYF | 494 |
| KCNH1 | N------------NVAWLVVDSIVDVIFLV>D<I-VLNFHTTFVG-PAGEVISDPKLIRMNYL | 292 |
| KCNH3 | E--------PSAARGPPSVCDLAVEVLFIL>D<I-VLNFRTTFVS-KSGQVVFAPKSICLHYV | 303 |
| KCNH4 | D--------TPITSRHTLVSDIAVEMLFIL>D<I-ILNFRTTYVS-QSGQVISAPRSIGLHYL | 305 |
| KCNH5 | N------------NIAWLVLDSVVDVIFLV>D<I-VLNFHTTFVG-PGGEVISDPKLIRMNYL | 289 |
| KCNH6 | QDE-SRRGACSYTCSPLTVVDLIVDIMFVV>D<I-VINFRTTYVN-TNDEVVSHPRRIAVHYF | 342 |
| KCNH7 | REE-QKRRECGYSCSPLNVVDLIVDIMFII>D<I-LINFRTTYVN-QNEEVVSDPAKIAIHYF | 493 |
| KCNH8 | D--------LS-TTRSTTVSDIAVEILFII>D<I-ILNFRTTYVS-KSGQVIFEARSICIHYV | 299 |
| CNGA1 | S----------DYLEYWLILDYVSDIVYLI>D<M-FVRTRTGYLE--QGLLVKEELKLINKYK | 241 |
| CNGA2 | K----------GYYLVWLVLDYVSDVVYIA>D<L-FIRLRTGFLE--QGLLVKDTKKLRDNYI | 216 |
| CNGA3 | S----------EYLMLWLVLDYSADVLYVL>D<V-LVRARTGFLE--QGLMVSDTNRLWQHYK | 244 |
| CNGA4 | H----------GYLVAWLVLDYTSDLLYLL>D<M-VVRFHTGFLE--QGILVVDKGRISSRYV | 110 |
| CNGB1 | P----------DNIHHWLLMDYLCDLIYFL>D<ITVFQTRLQFVR--GGDIITDKKDMRNNYL | 733 |
| CNGB3 | A----------DNIHYWLIADIICDIIYLY>D<MLFIQPRLQFVR--GGDIIVDSNELRKHYR | 295 |
| HCN1 | T------------TTPWIIFNVASDTVFLL>D<L-IMNFRTGTVNEDSSEIILDPKVIKMNYL | 218 |
| HCN2 | T------------TAPWIVFNVVSDTFFLM>D<L-VLNFRTGIVIEDNTEIILDPEKIKKKYL | 287 |
| HCN3 | N------------SPPWIVFNVLSDTFFLL>D<L-VLNFRTGIVVEEGAEILLAPRAIRTRYL | 169 |
| HCN4 | N------------TTPWIVFNVVSDTFFLI>D<L-VLNFRTGIVVEDNTEIILDPQRIKMKYL | 338 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D466Y | c.1396G>T | Inherited Arrhythmia | LQTS | rs199473511 | SIFT: deleterious Polyphen: probably damaging |
| 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 | ||