No paralogue variants have been mapped to residue 463 for KCNH2.
| KCNH2 | LKETEEGPPATECGYACQPLAVVDLIVDIM>F<IVDI-LINFRTTYVN-ANEEVVSHPGRIAV | 491 |
| KCNH1 | TRQN------------NVAWLVVDSIVDVI>F<LVDI-VLNFHTTFVG-PAGEVISDPKLIRM | 289 |
| KCNH3 | TARE--------PSAARGPPSVCDLAVEVL>F<ILDI-VLNFRTTFVS-KSGQVVFAPKSICL | 300 |
| KCNH4 | GDDD--------TPITSRHTLVSDIAVEML>F<ILDI-ILNFRTTYVS-QSGQVISAPRSIGL | 302 |
| KCNH5 | TKQN------------NIAWLVLDSVVDVI>F<LVDI-VLNFHTTFVG-PGGEVISDPKLIRM | 286 |
| KCNH6 | LSDQDE-SRRGACSYTCSPLTVVDLIVDIM>F<VVDI-VINFRTTYVN-TNDEVVSHPRRIAV | 339 |
| KCNH7 | LNDREE-QKRRECGYSCSPLNVVDLIVDIM>F<IIDI-LINFRTTYVN-QNEEVVSDPAKIAI | 490 |
| KCNH8 | GNDD--------LS-TTRSTTVSDIAVEIL>F<IIDI-ILNFRTTYVS-KSGQVIFEARSICI | 296 |
| CNGA1 | ELQS----------DYLEYWLILDYVSDIV>Y<LIDM-FVRTRTGYLE--QGLLVKEELKLIN | 238 |
| CNGA2 | DLQK----------GYYLVWLVLDYVSDVV>Y<IADL-FIRLRTGFLE--QGLLVKDTKKLRD | 213 |
| CNGA3 | ELQS----------EYLMLWLVLDYSADVL>Y<VLDV-LVRARTGFLE--QGLMVSDTNRLWQ | 241 |
| CNGA4 | DLQH----------GYLVAWLVLDYTSDLL>Y<LLDM-VVRFHTGFLE--QGILVVDKGRISS | 107 |
| CNGB1 | YQTP----------DNIHHWLLMDYLCDLI>Y<FLDITVFQTRLQFVR--GGDIITDKKDMRN | 730 |
| CNGB3 | YQTA----------DNIHYWLIADIICDII>Y<LYDMLFIQPRLQFVR--GGDIIVDSNELRK | 292 |
| HCN1 | TEQT------------TTPWIIFNVASDTV>F<LLDL-IMNFRTGTVNEDSSEIILDPKVIKM | 215 |
| HCN2 | KDET------------TAPWIVFNVVSDTF>F<LMDL-VLNFRTGIVIEDNTEIILDPEKIKK | 284 |
| HCN3 | KEEN------------SPPWIVFNVLSDTF>F<LLDL-VLNFRTGIVVEEGAEILLAPRAIRT | 166 |
| HCN4 | KDEN------------TTPWIVFNVVSDTF>F<LIDL-VLNFRTGIVVEDNTEIILDPQRIKM | 335 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F463L | c.1387T>C | Inherited Arrhythmia | LQTS | rs199472904 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | [Identification of a novel KCNH2 mutation in a family with congenital long QT syndrome and prediction of the secondary structure of its encoding protein]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 25(6):704-7. 19065538 | ||
| Inherited Arrhythmia | LQTS | [Identification of a new missense mutation in a Chinese family with inherited long QT syndrome (no abstract)]. Zhonghua Xin Xue Guan Bing Za Zhi. 2008 36(6):561-2. 19100075 | |||
| Inherited Arrhythmia | LQTS | HERG-F463L potassium channels linked to long QT syndrome reduce I(Kr) current by a trafficking-deficient mechanism. Clin Exp Pharmacol Physiol. 2009 36(8):822-7. 19215240 | |||
| p.F463L | c.1389C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||