No paralogue variants have been mapped to residue 431 for KCNH2.
KCNH2 | HYSPFKA-VWDWLILLLVIYTAVFTPYSAA>F<LLKETEEGPPATECGYACQPLAVVDLIVDI | 461 |
KCNH1 | HYCVFKT-TWDWIILILTFYTAILVPYNVS>F<KTRQN------------NVAWLVVDSIVDV | 259 |
KCNH3 | HCGALRA-TWDGFILLATLYVAVTVPYSVC>V<STARE--------PSAARGPPSVCDLAVEV | 270 |
KCNH4 | HYSVSKA-IWDGLILLATFYVAVTVPYNVC>F<SGDDD--------TPITSRHTLVSDIAVEM | 272 |
KCNH5 | HYCAFKT-TWDWVILILTFYTAIMVPYNVS>F<KTKQN------------NIAWLVLDSVVDV | 256 |
KCNH6 | HYSPFKA-VWDWLILLLVIYTAVFTPYSAA>F<LLSDQDE-SRRGACSYTCSPLTVVDLIVDI | 309 |
KCNH7 | HYSPFKA-VWDWLILLLVIYTAIFTPYSAA>F<LLNDREE-QKRRECGYSCSPLNVVDLIVDI | 460 |
KCNH8 | HFSTFKA-GWDWLILLATFYVAVTVPYNVC>F<IGNDD--------LS-TTRSTTVSDIAVEI | 266 |
CNGA1 | PSGNTYY-NWLFCITLPVMYNWTMVIARAC>F<DELQS----------DYLEYWLILDYVSDI | 209 |
CNGA2 | PAGDWYY-CWLFVIAMPVLYNWCLLVARAC>F<SDLQK----------GYYLVWLVLDYVSDV | 184 |
CNGA3 | PSSNLYY-RWLTAIALPVFYNWYLLICRAC>F<DELQS----------EYLMLWLVLDYSADV | 212 |
CNGA4 | PSGDYYY-WWLNTMVFPVMYNLIILVCRAC>F<PDLQH----------GYLVAWLVLDYTSDL | 78 |
CNGB1 | PLTNLMYVLWLFFVVMAWNWNCWLIPVRWA>F<PYQTP----------DNIHHWLLMDYLCDL | 700 |
CNGB3 | SYTDRLYLLWLLLVTLAYNWNCCFIPLRLV>F<PYQTA----------DNIHYWLIADIICDI | 262 |
HCN1 | PYSDFRF-YWDLIMLIMMVGNLVIIPVGIT>F<FTEQT------------TTPWIIFNVASDT | 184 |
HCN2 | PYSDFRF-YWDFTMLLFMVGNLIIIPVGIT>F<FKDET------------TAPWIVFNVVSDT | 253 |
HCN3 | PYSDFRF-YWDLIMLLLMVGNLIVLPVGIT>F<FKEEN------------SPPWIVFNVLSDT | 135 |
HCN4 | PYSDFRF-YWDLTMLLLMVGNLIIIPVGIT>F<FKDEN------------TTPWIVFNVVSDT | 304 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F431L | c.1293C>A | Inherited Arrhythmia | LQTS | rs199472900 | 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 |