Paralogue Annotation for KCNH2 residue 426

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 426
Reference Amino Acid: P - Proline
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 426

No paralogue variants have been mapped to residue 426 for KCNH2.



KCNH2RWTILHYSPFKA-VWDWLILLLVIYTAVFT>P<YSAAFLLKETEEGPPATECGYACQPLAVVD456
KCNH1PHIILHYCVFKT-TWDWIILILTFYTAILV>P<YNVSFKTRQN------------NVAWLVVD254
KCNH3PFILLHCGALRA-TWDGFILLATLYVAVTV>P<YSVCVSTARE--------PSAARGPPSVCD265
KCNH4RCLLLHYSVSKA-IWDGLILLATFYVAVTV>P<YNVCFSGDDD--------TPITSRHTLVSD267
KCNH5PHIILHYCAFKT-TWDWVILILTFYTAIMV>P<YNVSFKTKQN------------NIAWLVLD251
KCNH6RWTILHYSPFKA-VWDWLILLLVIYTAVFT>P<YSAAFLLSDQDE-SRRGACSYTCSPLTVVD304
KCNH7KFTILHYSPFKA-VWDWLILLLVIYTAIFT>P<YSAAFLLNDREE-QKRRECGYSCSPLNVVD455
KCNH8KFILLHFSTFKA-GWDWLILLATFYVAVTV>P<YNVCFIGNDD--------LS-TTRSTTVSD261
CNGA1VVVIDPSGNTYY-NWLFCITLPVMYNWTMV>I<ARACFDELQS----------DYLEYWLILD204
CNGA2LFVLDPAGDWYY-CWLFVIAMPVLYNWCLL>V<ARACFSDLQK----------GYYLVWLVLD179
CNGA3AIVVDPSSNLYY-RWLTAIALPVFYNWYLL>I<CRACFDELQS----------EYLMLWLVLD207
CNGA4LPVLDPSGDYYY-WWLNTMVFPVMYNLIIL>V<CRACFPDLQH----------GYLVAWLVLD73
CNGB1PQSIDPLTNLMYVLWLFFVVMAWNWNCWLI>P<VRWAFPYQTP----------DNIHHWLLMD695
CNGB3PNSIDSYTDRLYLLWLLLVTLAYNWNCCFI>P<LRLVFPYQTA----------DNIHYWLIAD257
HCN1FWIIHPYSDFRF-YWDLIMLIMMVGNLVII>P<VGITFFTEQT------------TTPWIIFN179
HCN2AWIIHPYSDFRF-YWDFTMLLFMVGNLIII>P<VGITFFKDET------------TAPWIVFN248
HCN3AWIIHPYSDFRF-YWDLIMLLLMVGNLIVL>P<VGITFFKEEN------------SPPWIVFN130
HCN4FWIIHPYSDFRF-YWDLTMLLLMVGNLIII>P<VGITFFKDEN------------TTPWIVFN299
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P426Hc.1277C>A Inherited ArrhythmiaLQTSrs199472896SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS 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
p.P426Lc.1277C>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches. J Cardiovasc Transl Res. 2013 6(1):94-103. doi: 10.1007/s12265-012-9401-8. 22956155