Paralogue Annotation for KCNH2 residue 428

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 428
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 428

No paralogue variants have been mapped to residue 428 for KCNH2.



KCNH2TILHYSPFKA-VWDWLILLLVIYTAVFTPY>S<AAFLLKETEEGPPATECGYACQPLAVVDLI458
KCNH1IILHYCVFKT-TWDWIILILTFYTAILVPY>N<VSFKTRQN------------NVAWLVVDSI256
KCNH3ILLHCGALRA-TWDGFILLATLYVAVTVPY>S<VCVSTARE--------PSAARGPPSVCDLA267
KCNH4LLLHYSVSKA-IWDGLILLATFYVAVTVPY>N<VCFSGDDD--------TPITSRHTLVSDIA269
KCNH5IILHYCAFKT-TWDWVILILTFYTAIMVPY>N<VSFKTKQN------------NIAWLVLDSV253
KCNH6TILHYSPFKA-VWDWLILLLVIYTAVFTPY>S<AAFLLSDQDE-SRRGACSYTCSPLTVVDLI306
KCNH7TILHYSPFKA-VWDWLILLLVIYTAIFTPY>S<AAFLLNDREE-QKRRECGYSCSPLNVVDLI457
KCNH8ILLHFSTFKA-GWDWLILLATFYVAVTVPY>N<VCFIGNDD--------LS-TTRSTTVSDIA263
CNGA1VIDPSGNTYY-NWLFCITLPVMYNWTMVIA>R<ACFDELQS----------DYLEYWLILDYV206
CNGA2VLDPAGDWYY-CWLFVIAMPVLYNWCLLVA>R<ACFSDLQK----------GYYLVWLVLDYV181
CNGA3VVDPSSNLYY-RWLTAIALPVFYNWYLLIC>R<ACFDELQS----------EYLMLWLVLDYS209
CNGA4VLDPSGDYYY-WWLNTMVFPVMYNLIILVC>R<ACFPDLQH----------GYLVAWLVLDYT75
CNGB1SIDPLTNLMYVLWLFFVVMAWNWNCWLIPV>R<WAFPYQTP----------DNIHHWLLMDYL697
CNGB3SIDSYTDRLYLLWLLLVTLAYNWNCCFIPL>R<LVFPYQTA----------DNIHYWLIADII259
HCN1IIHPYSDFRF-YWDLIMLIMMVGNLVIIPV>G<ITFFTEQT------------TTPWIIFNVA181
HCN2IIHPYSDFRF-YWDFTMLLFMVGNLIIIPV>G<ITFFKDET------------TAPWIVFNVV250
HCN3IIHPYSDFRF-YWDLIMLLLMVGNLIVLPV>G<ITFFKEEN------------SPPWIVFNVL132
HCN4IIHPYSDFRF-YWDLTMLLLMVGNLIIIPV>G<ITFFKDEN------------TTPWIVFNVV301
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S428Lc.1283C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117
Inherited 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.S428Pc.1282T>C Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430