Paralogue Annotation for KCNH2 residue 533

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 533
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 533

No paralogue variants have been mapped to residue 533 for KCNH2.



KCNH2-----------------LIGLLKTARLLRL>V<RVARKLDRY-----SEYGAAV-LFLLMCTF557
KCNH1--IPPPLEGRESQGISSLFSSLKVVRLLRL>G<RVARKLDHY-----IEYGAAV-LVLLVCVF386
KCNH3--Y-------------FGAHLLKTVRLLRL>L<RLLPRLDRY-----SQYSAVV-LTLLMAVF367
KCNH4--T-------------SLVHLLKTVRLLRL>L<RLLQKLERY-----SQCSAVV-LTLLMSVF369
KCNH5--------------ISSLFSSLKVVRLLRL>G<RVARKLDHY-----LEYGAAV-LVLLVCVF356
KCNH6--T-------------TLIGLLKTARLLRL>V<RVARKLDRY-----SEYGAAV-LFLLMCTF408
KCNH7--T-------------TLIGLLKTARLLRL>V<RVARKLDRY-----SEYGAAV-LMLLMCIF559
KCNH8--V-------------SLVHLLKTVRLLRL>L<RLLQKLDRY-----SQHSTIV-LTLLMSMF363
CNGA1----------------PEIRLNRLLRFSRM>F<EFFQRTETR-----TNYPNIFRISNLVMYI307
CNGA2----------------PEVRFNRLLHFARM>F<EFFDRTETR-----TNYPNIFRISNLVLYI282
CNGA3----------------PEVRFNRLLKFSRL>F<EFFDRTETR-----TNYPNMFRIGNLVLYI310
CNGA4----------------PTLRLNRFLRAPRL>F<EAFDRTETR-----TAYPNAFRIAKLMLYI176
CNGB1----------------PLLRLPRCLKYMAF>F<EFNSRLESI-----LSKAYVYRVIRTTAYL798
CNGB3----------------PMFRANRMLKYTSF>F<EFNHHLESI-----MDKAYIYRVIRTTGYL360
HCN1RFT-------------KILSLLRLLRLSRL>I<RYIHQWEEIFHMTYDLASAVVRIFNLIGMM305
HCN2RFT-------------KILSLLRLLRLSRL>I<RYIHQWEEIFHMTYDLASAVMRICNLISMM374
HCN3RFT-------------KILSLLRLLRLSRL>I<RYIHQWEEIFHMTYDLASAVVRIFNLIGMM258
HCN4RFT-------------KILSLLRLLRLSRL>I<RYIHQWEEIFHMTYDLASAVVRIVNLIGMM425
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V533Gc.1598T>G Putative Benignrs202102276SIFT: deleterious
Polyphen: possibly damaging