Paralogue Annotation for KCNH2 residue 988

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 988
Reference Amino Acid: S - Serine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 988

No paralogue variants have been mapped to residue 988 for KCNH2.

KCNH2	--------------------EKSSDTCNPL>S<G-AFSGVSNIFS------------------	999
KCNH1	-------------------ECLGPKGGGGD>C<AK----RKSWAR------------------	839
KCNH3	-------------------LRLPPMPWNVP>P<DLSPRVVDGIED------------------	830
KCNH4	-------------------LLIPPLGTFGP>P<DLSPRIVDGIED------------------	833
KCNH5	-------------------ADQKCLKVNSP>I<RMKNGNGKGWLR------------------	813
KCNH6	-------------------LEQLQAQMNRL>E<SRVSSDLSRILQ------------------	849
KCNH7	-------------------IDKRSHSCKDI>T<DMRSWERENAHP------------------	1002
KCNH8	-------------------LQLSTLNNAGP>P<DLSPRIVDGIED------------------	819
CNGA1	------------------------------>-<------------------------------
CNGA2	------------------------------>-<------------------------------
CNGA3	------------------------------>-<------------------------------
CNGA4	------------------------------>-<---E--------------------------	563
CNGB1	------------------------------>-<-------A----------------------	1180
CNGB3	------------------------------>-<-------N----------------------	737
HCN1	---SPCSYTTAVCSPPVQSPLAARTFHYAS>P<TASQLSLMQ---------------------	731
HCN2	--RPPPGPAPAAASPG------------PP>P<PASP--------------------------	780
HCN3	--RSAWRSAGSPASPL------------VP>V<RAGPWASTS---------------------	669
HCN4	GARSPQAAQPSPAPPGARGGLGLPEHFLPP>P<PSSRSPSSSPGQLGQPPGELSLGLATGPLS	992
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S988A	c.2962T>G	Putative Benign			SIFT: Polyphen: