No paralogue variants have been mapped to residue 470 for KCNH2.
| KCNH2 | PATECGYACQPLAVVDLIVDIMFIVDI-LI>N<FRTTYVN-ANEEVVSHPGRIAVHYFKGW-F | 498 |
| KCNH1 | --------NVAWLVVDSIVDVIFLVDI-VL>N<FHTTFVG-PAGEVISDPKLIRMNYLKTW-F | 296 |
| KCNH3 | ----PSAARGPPSVCDLAVEVLFILDI-VL>N<FRTTFVS-KSGQVVFAPKSICLHYVTTW-F | 307 |
| KCNH4 | ----TPITSRHTLVSDIAVEMLFILDI-IL>N<FRTTYVS-QSGQVISAPRSIGLHYLATW-F | 309 |
| KCNH5 | --------NIAWLVLDSVVDVIFLVDI-VL>N<FHTTFVG-PGGEVISDPKLIRMNYLKTW-F | 293 |
| KCNH6 | RRGACSYTCSPLTVVDLIVDIMFVVDI-VI>N<FRTTYVN-TNDEVVSHPRRIAVHYFKGW-F | 346 |
| KCNH7 | KRRECGYSCSPLNVVDLIVDIMFIIDI-LI>N<FRTTYVN-QNEEVVSDPAKIAIHYFKGW-F | 497 |
| KCNH8 | ----LS-TTRSTTVSDIAVEILFIIDI-IL>N<FRTTYVS-KSGQVIFEARSICIHYVTTW-F | 303 |
| CNGA1 | ------DYLEYWLILDYVSDIVYLIDM-FV>R<TRTGYLE--QGLLVKEELKLINKYKSNLQF | 246 |
| CNGA2 | ------GYYLVWLVLDYVSDVVYIADL-FI>R<LRTGFLE--QGLLVKDTKKLRDNYIHTLQF | 221 |
| CNGA3 | ------EYLMLWLVLDYSADVLYVLDV-LV>R<ARTGFLE--QGLMVSDTNRLWQHYKTTTQF | 249 |
| CNGA4 | ------GYLVAWLVLDYTSDLLYLLDM-VV>R<FHTGFLE--QGILVVDKGRISSRYVRTWSF | 115 |
| CNGB1 | ------DNIHHWLLMDYLCDLIYFLDITVF>Q<TRLQFVR--GGDIITDKKDMRNNYLKSRRF | 738 |
| CNGB3 | ------DNIHYWLIADIICDIIYLYDMLFI>Q<PRLQFVR--GGDIIVDSNELRKHYRTSTKF | 300 |
| HCN1 | --------TTPWIIFNVASDTVFLLDL-IM>N<FRTGTVNEDSSEIILDPKVIKMNYLKSW-F | 222 |
| HCN2 | --------TAPWIVFNVVSDTFFLMDL-VL>N<FRTGIVIEDNTEIILDPEKIKKKYLRTW-F | 291 |
| HCN3 | --------SPPWIVFNVLSDTFFLLDL-VL>N<FRTGIVVEEGAEILLAPRAIRTRYLRTW-F | 173 |
| HCN4 | --------TTPWIVFNVVSDTFFLIDL-VL>N<FRTGIVVEDNTEIILDPQRIKMKYLKSW-F | 342 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N470D | c.1408A>G | Inherited Arrhythmia | LQTS | rs121912505 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 1995 80(5):795-803. 7889573 | ||
| Inherited Arrhythmia | LQTS | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| Unknown | Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome. J Biol Chem. 2006 281(7):4069-74. 16361248 | ||||