Paralogue Annotation for KCNH2 residue 431

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 431
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 431

No paralogue variants have been mapped to residue 431 for KCNH2.



KCNH2HYSPFKA-VWDWLILLLVIYTAVFTPYSAA>F<LLKETEEGPPATECGYACQPLAVVDLIVDI461
KCNH1HYCVFKT-TWDWIILILTFYTAILVPYNVS>F<KTRQN------------NVAWLVVDSIVDV259
KCNH3HCGALRA-TWDGFILLATLYVAVTVPYSVC>V<STARE--------PSAARGPPSVCDLAVEV270
KCNH4HYSVSKA-IWDGLILLATFYVAVTVPYNVC>F<SGDDD--------TPITSRHTLVSDIAVEM272
KCNH5HYCAFKT-TWDWVILILTFYTAIMVPYNVS>F<KTKQN------------NIAWLVLDSVVDV256
KCNH6HYSPFKA-VWDWLILLLVIYTAVFTPYSAA>F<LLSDQDE-SRRGACSYTCSPLTVVDLIVDI309
KCNH7HYSPFKA-VWDWLILLLVIYTAIFTPYSAA>F<LLNDREE-QKRRECGYSCSPLNVVDLIVDI460
KCNH8HFSTFKA-GWDWLILLATFYVAVTVPYNVC>F<IGNDD--------LS-TTRSTTVSDIAVEI266
CNGA1PSGNTYY-NWLFCITLPVMYNWTMVIARAC>F<DELQS----------DYLEYWLILDYVSDI209
CNGA2PAGDWYY-CWLFVIAMPVLYNWCLLVARAC>F<SDLQK----------GYYLVWLVLDYVSDV184
CNGA3PSSNLYY-RWLTAIALPVFYNWYLLICRAC>F<DELQS----------EYLMLWLVLDYSADV212
CNGA4PSGDYYY-WWLNTMVFPVMYNLIILVCRAC>F<PDLQH----------GYLVAWLVLDYTSDL78
CNGB1PLTNLMYVLWLFFVVMAWNWNCWLIPVRWA>F<PYQTP----------DNIHHWLLMDYLCDL700
CNGB3SYTDRLYLLWLLLVTLAYNWNCCFIPLRLV>F<PYQTA----------DNIHYWLIADIICDI262
HCN1PYSDFRF-YWDLIMLIMMVGNLVIIPVGIT>F<FTEQT------------TTPWIIFNVASDT184
HCN2PYSDFRF-YWDFTMLLFMVGNLIIIPVGIT>F<FKDET------------TAPWIVFNVVSDT253
HCN3PYSDFRF-YWDLIMLLLMVGNLIVLPVGIT>F<FKEEN------------SPPWIVFNVLSDT135
HCN4PYSDFRF-YWDLTMLLLMVGNLIIIPVGIT>F<FKDEN------------TTPWIVFNVVSDT304
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F431Lc.1293C>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS 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