Paralogue Annotation for KCNH2 residue 538

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 538
Reference Amino Acid: K - Lysine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNH2 residue 538

No paralogue variants have been mapped to residue 538 for KCNH2.

KCNH2	------------LIGLLKTARLLRLVRVAR>K<LDRY-----SEYGAAV-LFLLMCTFALIAH	562
KCNH1	PLEGRESQGISSLFSSLKVVRLLRLGRVAR>K<LDHY-----IEYGAAV-LVLLVCVFGLAAH	391
KCNH3	-----------FGAHLLKTVRLLRLLRLLP>R<LDRY-----SQYSAVV-LTLLMAVFALLAH	372
KCNH4	-----------SLVHLLKTVRLLRLLRLLQ>K<LERY-----SQCSAVV-LTLLMSVFALLAH	374
KCNH5	---------ISSLFSSLKVVRLLRLGRVAR>K<LDHY-----LEYGAAV-LVLLVCVFGLVAH	361
KCNH6	-----------TLIGLLKTARLLRLVRVAR>K<LDRY-----SEYGAAV-LFLLMCTFALIAH	413
KCNH7	-----------TLIGLLKTARLLRLVRVAR>K<LDRY-----SEYGAAV-LMLLMCIFALIAH	564
KCNH8	-----------SLVHLLKTVRLLRLLRLLQ>K<LDRY-----SQHSTIV-LTLLMSMFALLAH	368
CNGA1	-----------PEIRLNRLLRFSRMFEFFQ>R<TETR-----TNYPNIFRISNLVMYIVIIIH	312
CNGA2	-----------PEVRFNRLLHFARMFEFFD>R<TETR-----TNYPNIFRISNLVLYILVIIH	287
CNGA3	-----------PEVRFNRLLKFSRLFEFFD>R<TETR-----TNYPNMFRIGNLVLYILIIIH	315
CNGA4	-----------PTLRLNRFLRAPRLFEAFD>R<TETR-----TAYPNAFRIAKLMLYIFVVIH	181
CNGB1	-----------PLLRLPRCLKYMAFFEFNS>R<LESI-----LSKAYVYRVIRTTAYLLYSLH	803
CNGB3	-----------PMFRANRMLKYTSFFEFNH>H<LESI-----MDKAYIYRVIRTTGYLLFILH	365
HCN1	-----------KILSLLRLLRLSRLIRYIH>Q<WEEIFHMTYDLASAVVRIFNLIGMMLLLCH	310
HCN2	-----------KILSLLRLLRLSRLIRYIH>Q<WEEIFHMTYDLASAVMRICNLISMMLLLCH	379
HCN3	-----------KILSLLRLLRLSRLIRYIH>Q<WEEIFHMTYDLASAVVRIFNLIGMMLLLCH	263
HCN4	-----------KILSLLRLLRLSRLIRYIH>Q<WEEIFHMTYDLASAVVRIVNLIGMMLLLCH	430
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Lys538Glu	c.1612A>G	Unknown			SIFT: Polyphen: