Paralogue Annotation for KCNH2 residue 410

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 410
Reference Amino Acid: W - Tryptophan
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNH2 residue 410

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	W171X	Cone dystrophy	High	7	24903488
CNGA3	W171C	Cone dystrophy	High	7	24903488, 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	ADVL-PEYKLQAPRIHRWTILHYSPFKA-V>W<DWLILLLVIYTAVFTPYSAAFLLKETEEGP	440
KCNH1	SDIL-PQYKQEAPKTPPHIILHYCVFKT-T>W<DWIILILTFYTAILVPYNVSFKTRQN----	246
KCNH3	KPNL-PEYKVAAIRKSPFILLHCGALRA-T>W<DGFILLATLYVAVTVPYSVCVSTARE----	253
KCNH4	KPSV-PEYKVASVGGSRCLLLHYSVSKA-I>W<DGLILLATFYVAVTVPYNVCFSGDDD----	255
KCNH5	SDIL-PQYKQEAPKTPPHIILHYCAFKT-T>W<DWVILILTFYTAIMVPYNVSFKTKQN----	243
KCNH6	ADVL-PEYKLQAPRIHRWTILHYSPFKA-V>W<DWLILLLVIYTAVFTPYSAAFLLSDQDE-S	288
KCNH7	ADVL-PEYKLQTPRINKFTILHYSPFKA-V>W<DWLILLLVIYTAIFTPYSAAFLLNDREE-Q	439
KCNH8	KPAF-PEYKVSDAKKSKFILLHFSTFKA-G>W<DWLILLATFYVAVTVPYNVCFIGNDD----	250
CNGA1	--EEKSKDKKEEEKKEVVVIDPSGNTYY-N>W<LFCITLPVMYNWTMVIARACFDELQS----	194
CNGA2	---KDGEDKGTKKKFELFVLDPAGDWYY-C>W<LFVIAMPVLYNWCLLVARACFSDLQK----	169
CNGA3	SNN-TEEE-KKTKKKDAIVVDPSSNLYY-R>W<LTAIALPVFYNWYLLICRACFDELQS----	197
CNGA4	-----SPPAPSKARKLLPVLDPSGDYYY-W>W<LNTMVFPVMYNLIILVCRACFPDLQH----	63
CNGB1	FKHR-PW----KKYQFPQSIDPLTNLMYVL>W<LFFVVMAWNWNCWLIPVRWAFPYQTP----	685
CNGB3	VKKM-PLTEYLKRIKLPNSIDSYTDRLYLL>W<LLLVTLAYNWNCCFIPLRLVFPYQTA----	247
HCN1	QKAV-EKEQERVKTAGFWIIHPYSDFRF-Y>W<DLIMLIMMVGNLVIIPVGITFFTEQT----	171
HCN2	QKAV-EREQERVKSAGAWIIHPYSDFRF-Y>W<DFTMLLFMVGNLIIIPVGITFFKDET----	240
HCN3	HKAV-EIEQERVKSAGAWIIHPYSDFRF-Y>W<DLIMLLLMVGNLIVLPVGITFFKEEN----	122
HCN4	QKAV-EREQERVKSAGFWIIHPYSDFRF-Y>W<DLTMLLLMVGNLIIIPVGITFFKDEN----	291
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.W410S	c.1229G>C	Inherited Arrhythmia	LQTS	rs199472892	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