No paralogue variants have been mapped to residue 451 for KCNH2.
| KCNH2 | TAVFTPYSAAFLLKETEEGPPATECGYACQ>P<LAVVDLIVDIMFIVDI-LINFRTTYVN-AN | 479 |
| KCNH1 | TAILVPYNVSFKTRQN------------NV>A<WLVVDSIVDVIFLVDI-VLNFHTTFVG-PA | 277 |
| KCNH3 | VAVTVPYSVCVSTARE--------PSAARG>P<PSVCDLAVEVLFILDI-VLNFRTTFVS-KS | 288 |
| KCNH4 | VAVTVPYNVCFSGDDD--------TPITSR>H<TLVSDIAVEMLFILDI-ILNFRTTYVS-QS | 290 |
| KCNH5 | TAIMVPYNVSFKTKQN------------NI>A<WLVLDSVVDVIFLVDI-VLNFHTTFVG-PG | 274 |
| KCNH6 | TAVFTPYSAAFLLSDQDE-SRRGACSYTCS>P<LTVVDLIVDIMFVVDI-VINFRTTYVN-TN | 327 |
| KCNH7 | TAIFTPYSAAFLLNDREE-QKRRECGYSCS>P<LNVVDLIVDIMFIIDI-LINFRTTYVN-QN | 478 |
| KCNH8 | VAVTVPYNVCFIGNDD--------LS-TTR>S<TTVSDIAVEILFIIDI-ILNFRTTYVS-KS | 284 |
| CNGA1 | NWTMVIARACFDELQS----------DYLE>Y<WLILDYVSDIVYLIDM-FVRTRTGYLE--Q | 226 |
| CNGA2 | NWCLLVARACFSDLQK----------GYYL>V<WLVLDYVSDVVYIADL-FIRLRTGFLE--Q | 201 |
| CNGA3 | NWYLLICRACFDELQS----------EYLM>L<WLVLDYSADVLYVLDV-LVRARTGFLE--Q | 229 |
| CNGA4 | NLIILVCRACFPDLQH----------GYLV>A<WLVLDYTSDLLYLLDM-VVRFHTGFLE--Q | 95 |
| CNGB1 | NCWLIPVRWAFPYQTP----------DNIH>H<WLLMDYLCDLIYFLDITVFQTRLQFVR--G | 718 |
| CNGB3 | NCCFIPLRLVFPYQTA----------DNIH>Y<WLIADIICDIIYLYDMLFIQPRLQFVR--G | 280 |
| HCN1 | NLVIIPVGITFFTEQT------------TT>P<WIIFNVASDTVFLLDL-IMNFRTGTVNEDS | 203 |
| HCN2 | NLIIIPVGITFFKDET------------TA>P<WIVFNVVSDTFFLMDL-VLNFRTGIVIEDN | 272 |
| HCN3 | NLIVLPVGITFFKEEN------------SP>P<WIVFNVLSDTFFLLDL-VLNFRTGIVVEEG | 154 |
| HCN4 | NLIIIPVGITFFKDEN------------TT>P<WIVFNVVSDTFFLIDL-VLNFRTGIVVEDN | 323 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P451L | c.1352C>T | Inherited Arrhythmia | LQTS | rs199472902 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. Hum Mutat. 2000 15(6):580-1. 10862094 | ||
| 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 | |||
| p.P451S | c.1351C>T | Putative Benign | rs267601415 | SIFT: deleterious Polyphen: possibly damaging | |