No paralogue variants have been mapped to residue 427 for KCNH2.
| KCNH2 | WTILHYSPFKA-VWDWLILLLVIYTAVFTP>Y<SAAFLLKETEEGPPATECGYACQPLAVVDL | 457 |
| KCNH1 | HIILHYCVFKT-TWDWIILILTFYTAILVP>Y<NVSFKTRQN------------NVAWLVVDS | 255 |
| KCNH3 | FILLHCGALRA-TWDGFILLATLYVAVTVP>Y<SVCVSTARE--------PSAARGPPSVCDL | 266 |
| KCNH4 | CLLLHYSVSKA-IWDGLILLATFYVAVTVP>Y<NVCFSGDDD--------TPITSRHTLVSDI | 268 |
| KCNH5 | HIILHYCAFKT-TWDWVILILTFYTAIMVP>Y<NVSFKTKQN------------NIAWLVLDS | 252 |
| KCNH6 | WTILHYSPFKA-VWDWLILLLVIYTAVFTP>Y<SAAFLLSDQDE-SRRGACSYTCSPLTVVDL | 305 |
| KCNH7 | FTILHYSPFKA-VWDWLILLLVIYTAIFTP>Y<SAAFLLNDREE-QKRRECGYSCSPLNVVDL | 456 |
| KCNH8 | FILLHFSTFKA-GWDWLILLATFYVAVTVP>Y<NVCFIGNDD--------LS-TTRSTTVSDI | 262 |
| CNGA1 | VVIDPSGNTYY-NWLFCITLPVMYNWTMVI>A<RACFDELQS----------DYLEYWLILDY | 205 |
| CNGA2 | FVLDPAGDWYY-CWLFVIAMPVLYNWCLLV>A<RACFSDLQK----------GYYLVWLVLDY | 180 |
| CNGA3 | IVVDPSSNLYY-RWLTAIALPVFYNWYLLI>C<RACFDELQS----------EYLMLWLVLDY | 208 |
| CNGA4 | PVLDPSGDYYY-WWLNTMVFPVMYNLIILV>C<RACFPDLQH----------GYLVAWLVLDY | 74 |
| CNGB1 | QSIDPLTNLMYVLWLFFVVMAWNWNCWLIP>V<RWAFPYQTP----------DNIHHWLLMDY | 696 |
| CNGB3 | NSIDSYTDRLYLLWLLLVTLAYNWNCCFIP>L<RLVFPYQTA----------DNIHYWLIADI | 258 |
| HCN1 | WIIHPYSDFRF-YWDLIMLIMMVGNLVIIP>V<GITFFTEQT------------TTPWIIFNV | 180 |
| HCN2 | WIIHPYSDFRF-YWDFTMLLFMVGNLIIIP>V<GITFFKDET------------TAPWIVFNV | 249 |
| HCN3 | WIIHPYSDFRF-YWDLIMLLLMVGNLIVLP>V<GITFFKEEN------------SPPWIVFNV | 131 |
| HCN4 | WIIHPYSDFRF-YWDLTMLLLMVGNLIIIP>V<GITFFKDEN------------TTPWIVFNV | 300 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y427C | c.1280A>G | Inherited Arrhythmia | LQTS | rs199472897 | 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 | ||
| p.Y427H | c.1279T>C | Inherited Arrhythmia | LQTS | rs199472898 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| Inherited Arrhythmia | LQTS | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724 | |||
| p.Y427S | c.1280A>C | Inherited Arrhythmia | LQTS | rs199472897 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| 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 | |||