Paralogue Annotation for KCNH2 residue 460

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 460
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNH2 residue 460

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	D211E	Achromatopsia	High	9	25637600

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.

KCNH2	AFLLKETEEGPPATECGYACQPLAVVDLIV>D<IMFIVDI-LINFRTTYVN-ANEEVVSHPGR	488
KCNH1	SFKTRQN------------NVAWLVVDSIV>D<VIFLVDI-VLNFHTTFVG-PAGEVISDPKL	286
KCNH3	CVSTARE--------PSAARGPPSVCDLAV>E<VLFILDI-VLNFRTTFVS-KSGQVVFAPKS	297
KCNH4	CFSGDDD--------TPITSRHTLVSDIAV>E<MLFILDI-ILNFRTTYVS-QSGQVISAPRS	299
KCNH5	SFKTKQN------------NIAWLVLDSVV>D<VIFLVDI-VLNFHTTFVG-PGGEVISDPKL	283
KCNH6	AFLLSDQDE-SRRGACSYTCSPLTVVDLIV>D<IMFVVDI-VINFRTTYVN-TNDEVVSHPRR	336
KCNH7	AFLLNDREE-QKRRECGYSCSPLNVVDLIV>D<IMFIIDI-LINFRTTYVN-QNEEVVSDPAK	487
KCNH8	CFIGNDD--------LS-TTRSTTVSDIAV>E<ILFIIDI-ILNFRTTYVS-KSGQVIFEARS	293
CNGA1	CFDELQS----------DYLEYWLILDYVS>D<IVYLIDM-FVRTRTGYLE--QGLLVKEELK	235
CNGA2	CFSDLQK----------GYYLVWLVLDYVS>D<VVYIADL-FIRLRTGFLE--QGLLVKDTKK	210
CNGA3	CFDELQS----------EYLMLWLVLDYSA>D<VLYVLDV-LVRARTGFLE--QGLMVSDTNR	238
CNGA4	CFPDLQH----------GYLVAWLVLDYTS>D<LLYLLDM-VVRFHTGFLE--QGILVVDKGR	104
CNGB1	AFPYQTP----------DNIHHWLLMDYLC>D<LIYFLDITVFQTRLQFVR--GGDIITDKKD	727
CNGB3	VFPYQTA----------DNIHYWLIADIIC>D<IIYLYDMLFIQPRLQFVR--GGDIIVDSNE	289
HCN1	TFFTEQT------------TTPWIIFNVAS>D<TVFLLDL-IMNFRTGTVNEDSSEIILDPKV	212
HCN2	TFFKDET------------TAPWIVFNVVS>D<TFFLMDL-VLNFRTGIVIEDNTEIILDPEK	281
HCN3	TFFKEEN------------SPPWIVFNVLS>D<TFFLLDL-VLNFRTGIVVEEGAEILLAPRA	163
HCN4	TFFKDEN------------TTPWIVFNVVS>D<TFFLIDL-VLNFRTGIVVEDNTEIILDPQR	332
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D460Y	c.1378G>T	Inherited Arrhythmia	LQTS	rs199472903	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	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