Paralogue Annotation for KCNH2 residue 394

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 394
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 394

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNH7	R394H	Bipolar spectrum disorder	High	5	24986916, 24986916

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	NV-TEKVTQVL---SLGADVL-PEYKLQAP>R<IHRWTILHYSPFKA-VWDWLILLLVIYTAV	423
KCNH1	HK-HSRLAEVL---QLGSDIL-PQYKQEAP>K<TPPHIILHYCVFKT-TWDWIILILTFYTAI	233
KCNH3	G--KHKLNKGV---FGEKPNL-PEYKVAAI>R<KSPFILLHCGALRA-TWDGFILLATLYVAV	240
KCNH4	G--GMKANNNV---FEPKPSV-PEYKVASV>G<GSRCLLLHYSVSKA-IWDGLILLATFYVAV	242
KCNH5	HK-HSRLAEVL---QLGSDIL-PQYKQEAP>K<TPPHIILHYCAFKT-TWDWVILILTFYTAI	230
KCNH6	NV-TEKVTQVL---SLGADVL-PEYKLQAP>R<IHRWTILHYSPFKA-VWDWLILLLVIYTAV	272
KCNH7	NV-TEKVTQVL---SLGADVL-PEYKLQTP>R<INKFTILHYSPFKA-VWDWLILLLVIYTAI	423
KCNH8	N--KLKINNNV---FVDKPAF-PEYKVSDA>K<KSKFILLHFSTFKA-GWDWLILLATFYVAV	237
CNGA1	----K-KKKD-KEKKKK--EEKSKDKKEEE>K<KEVVVIDPSGNTYY-NWLFCITLPVMYNWT	181
CNGA2	--------------------KDGEDKGTKK>K<FELFVLDPAGDWYY-CWLFVIAMPVLYNWC	156
CNGA3	DRGRS-AWPLAKCNTNTSNN-TEEE-KKTK>K<KDAIVVDPSSNLYY-RWLTAIALPVFYNWY	184
CNGA4	----------------------SPPAPSKA>R<KLLPVLDPSGDYYY-WWLNTMVFPVMYNLI	50
CNGB1	EE-EHYCDMLC----CKFKHR-PW----KK>Y<QFPQSIDPLTNLMYVLWLFFVVMAWNWNCW	672
CNGB3	PT-EHYYRLLW----FKVKKM-PLTEYLKR>I<KLPNSIDSYTDRLYLLWLLLVTLAYNWNCC	234
HCN1	GV-NKF-SLRM---FGSQKAV-EKEQERVK>T<AGFWIIHPYSDFRF-YWDLIMLIMMVGNLV	158
HCN2	GV-NKF-SLRM---FGSQKAV-EREQERVK>S<AGAWIIHPYSDFRF-YWDFTMLLFMVGNLI	227
HCN3	TV-NKF-SLRV---FGSHKAV-EIEQERVK>S<AGAWIIHPYSDFRF-YWDLIMLLLMVGNLI	109
HCN4	GV-NKF-SLRM---FGSQKAV-EREQERVK>S<AGFWIIHPYSDFRF-YWDLTMLLLMVGNLI	278
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R394H	c.1181G>A	Putative Benign			SIFT: Polyphen: