Paralogue Annotation for KCNH2 residue 535

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 535
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 535

No paralogue variants have been mapped to residue 535 for KCNH2.



KCNH2---------------LIGLLKTARLLRLVR>V<ARKLDRY-----SEYGAAV-LFLLMCTFAL559
KCNH1IPPPLEGRESQGISSLFSSLKVVRLLRLGR>V<ARKLDHY-----IEYGAAV-LVLLVCVFGL388
KCNH3Y-------------FGAHLLKTVRLLRLLR>L<LPRLDRY-----SQYSAVV-LTLLMAVFAL369
KCNH4T-------------SLVHLLKTVRLLRLLR>L<LQKLERY-----SQCSAVV-LTLLMSVFAL371
KCNH5------------ISSLFSSLKVVRLLRLGR>V<ARKLDHY-----LEYGAAV-LVLLVCVFGL358
KCNH6T-------------TLIGLLKTARLLRLVR>V<ARKLDRY-----SEYGAAV-LFLLMCTFAL410
KCNH7T-------------TLIGLLKTARLLRLVR>V<ARKLDRY-----SEYGAAV-LMLLMCIFAL561
KCNH8V-------------SLVHLLKTVRLLRLLR>L<LQKLDRY-----SQHSTIV-LTLLMSMFAL365
CNGA1--------------PEIRLNRLLRFSRMFE>F<FQRTETR-----TNYPNIFRISNLVMYIVI309
CNGA2--------------PEVRFNRLLHFARMFE>F<FDRTETR-----TNYPNIFRISNLVLYILV284
CNGA3--------------PEVRFNRLLKFSRLFE>F<FDRTETR-----TNYPNMFRIGNLVLYILI312
CNGA4--------------PTLRLNRFLRAPRLFE>A<FDRTETR-----TAYPNAFRIAKLMLYIFV178
CNGB1--------------PLLRLPRCLKYMAFFE>F<NSRLESI-----LSKAYVYRVIRTTAYLLY800
CNGB3--------------PMFRANRMLKYTSFFE>F<NHHLESI-----MDKAYIYRVIRTTGYLLF362
HCN1T-------------KILSLLRLLRLSRLIR>Y<IHQWEEIFHMTYDLASAVVRIFNLIGMMLL307
HCN2T-------------KILSLLRLLRLSRLIR>Y<IHQWEEIFHMTYDLASAVMRICNLISMMLL376
HCN3T-------------KILSLLRLLRLSRLIR>Y<IHQWEEIFHMTYDLASAVVRIFNLIGMMLL260
HCN4T-------------KILSLLRLLRLSRLIR>Y<IHQWEEIFHMTYDLASAVVRIVNLIGMMLL427
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V535Mc.1603G>A Inherited ArrhythmiaLQTSrs375872367SIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Electrophysiological study of V535M hERG mutation of LQT2. J Huazhong Univ Sci Technolog Med Sci. 2011 31(6):741-8. 22173492
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381