Paralogue Annotation for KCNH2 residue 514

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 514
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNH2 residue 514

No paralogue variants have been mapped to residue 514 for KCNH2.

KCNH2	HPGRIAVHYFKGW-FLIDMVAAIPFDLLIF>G<SGSEE-------------------------	519
KCNH1	DPKLIRMNYLKTW-FVIDLLSCLPYDVINA>F<ENVDEVSAFMGDPGKIGFADQ---IPPPLE	339
KCNH3	APKSICLHYVTTW-FLLDVIAALPFDLLHA>F<-KVN----------------V---Y-----	328
KCNH4	APRSIGLHYLATW-FFIDLIAALPFDLLYI>F<-NIT----------------V---T-----	330
KCNH5	DPKLIRMNYLKTW-FVIDLLSCLPYDIINA>F<ENVDEG------------------------	315
KCNH6	HPRRIAVHYFKGW-FLIDMVAAIPFDLLIF>R<TGSDE---------------T---T-----	369
KCNH7	DPAKIAIHYFKGW-FLIDMVAAIPFDLLIF>G<SGSDE---------------T---T-----	520
KCNH8	EARSICIHYVTTW-FIIDLIAALPFDLLYA>F<-NVT----------------V---V-----	324
CNGA1	EELKLINKYKSNLQFKLDVLSLIPTDLLYF>K<LGWNY-------------------------	267
CNGA2	DTKKLRDNYIHTLQFKLDVASIIPTDLIYF>A<VDIHS-------------------------	242
CNGA3	DTNRLWQHYKTTTQFKLDVLSLVPTDLAYL>K<VGTNY-------------------------	270
CNGA4	DKGRISSRYVRTWSFFLDLASLMPTDVVYV>R<LGPHT-------------------------	136
CNGB1	DKKDMRNNYLKSRRFKMDLLSLLPLDFLYL>K<VGVN--------------------------	758
CNGB3	DSNELRKHYRTSTKFQLDVASIIPFDICYL>F<FGFN--------------------------	320
HCN1	DPKVIKMNYLKSW-FVVDFISSIPVDYIFL>I<VEK--GMDSEVYKTARALR-IVRFT-----	260
HCN2	DPEKIKKKYLRTW-FVVDFVSSIPVDYIFL>I<VEK--GIDSEVYKTARALR-IVRFT-----	329
HCN3	APRAIRTRYLRTW-FLVDLISSIPVDYIFL>V<VELEPRLDAEVYKTARALR-IVRFT-----	213
HCN4	DPQRIKMKYLKSW-FMVDFISSIPVDYIFL>I<VET--RIDSEVYKTARALR-IVRFT-----	380
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G514S	c.1540G>A	Putative Benign			SIFT: tolerated Polyphen: probably damaging