No paralogue variants have been mapped to residue 749 for KCNH2.
| KCNH2 | GFPECLQADICLHLNRSLLQHCKPFRGATK>G<CLRALAMKFKTTHAPPGDTLVHAGDLLTAL | 779 |
| KCNH1 | ICPKDMRADICVHLNRKVFKEHPAFRLASD>G<CLRALAMEFQTVHCAPGDLIYHAGESVDSL | 618 |
| KCNH3 | SLPDELRADIAMHLHKEVL-QLPLFEAASR>G<CLRALSLALRPAFCTPGEYLIHQGDALQAL | 619 |
| KCNH4 | DFPDELRADIAMHLNREIL-QLPLFGAASR>G<CLRALSLHIKTSFCAPGEYLLRRGDALQAH | 593 |
| KCNH5 | ICPKDMRADICVHLNRKVFNEHPAFRLASD>G<CLRALAVEFQTIHCAPGDLIYHAGESVDAL | 587 |
| KCNH6 | GFPECLQADICLHLHRALLQHCPAFSGAGK>G<CLRALAVKFKTTHAPPGDTLVHLGDVLSTL | 631 |
| KCNH7 | GFPECLQADICLHLNQTLLQNCKAFRGASK>G<CLRALAMKFKTTHAPPGDTLVHCGDVLTAL | 782 |
| KCNH8 | DFPDELRSDITMHLNKEIL-QLSLFECASR>G<CLRSLSLHIKTSFCAPGEYLLRQGDALQAI | 588 |
| CNGA1 | YLPDKLRAEIAINVHLDTLKKVRIFADCEA>G<LLVELVLKLQPQVYSPGDYICKKGDIGREM | 516 |
| CNGA2 | NLPAKLRAEIAINVHLSTLKKVRIFHDCEA>G<LLVELVLKLRPQVFSPGDYICRKGDIGKEM | 491 |
| CNGA3 | SLPDKLKAEIAINVHLDTLKKVRIFQDCEA>G<LLVELVLKLRPTVFSPGDYICKKGDIGKEM | 519 |
| CNGA4 | HLPERLRAEVAVSVHLSTLSRVQIFQNCEA>S<LLEELVLKLQPQTYSPGEYVCRKGDIGQEM | 385 |
| CNGB1 | QLPDKMRLDLAIDVNYNIVSKVALFQGCDR>Q<MIFDMLKRLRSVVYLPNDYVCKKGEIGREM | 999 |
| CNGB3 | TLPTTVQLALAIDVNFSIISKVDLFKGCDT>Q<MIYDMLLRLKSVLYLPGDFVCKKGEIGKEM | 561 |
| HCN1 | ELNDPLREEIVNFNCRKLVATMPLFANADP>N<FVTAMLSKLRFEVFQPGDYIIREGAVGKKM | 512 |
| HCN2 | ELNGPLREEIVNFNCRKLVASMPLFANADP>N<FVTAMLTKLKFEVFQPGDYIIREGTIGKKM | 581 |
| HCN3 | ELSEPLREEIINFTCRGLVAHMPLFAHADP>S<FVTAVLTKLRFEVFQPGDLVVREGSVGRKM | 465 |
| HCN4 | ELSEPLREEIINFNCRKLVASMPLFANADP>N<FVTSMLTKLRFEVFQPGDYIIREGTIGKKM | 632 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G749V | c.2246G>T | Inherited Arrhythmia | LQTS | rs199472989 | 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 | ||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
| p.G749A | c.2246G>C | Other Cardiac Phenotype | SIFT: Polyphen: | ||
| Reports | Other Cardiac Phenotype | Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Ann Neurol. 2016 79(4):522-34. doi: 10.1002/ana.24596. 26704558 | |||