Paralogue Annotation for KCNH2 residue 990

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 990
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 990

No paralogue variants have been mapped to residue 990 for KCNH2.

KCNH2	-----------------EKSSDTCNPLSG->A<FSGVSNIFS---------------------	999
KCNH1	----------------ECLGPKGGGGDCAK>-<---RKSWAR---------------------	839
KCNH3	----------------LRLPPMPWNVPPDL>S<PRVVDGIED---------------------	830
KCNH4	----------------LLIPPLGTFGPPDL>S<PRIVDGIED---------------------	833
KCNH5	----------------ADQKCLKVNSPIRM>K<NGNGKGWLR---------------------	813
KCNH6	----------------LEQLQAQMNRLESR>V<SSDLSRILQ---------------------	849
KCNH7	----------------IDKRSHSCKDITDM>R<SWERENAHP---------------------	1002
KCNH8	----------------LQLSTLNNAGPPDL>S<PRIVDGIED---------------------	819
CNGA1	------------------------------>-<------------------------------
CNGA2	------------------------------>-<------------------------------
CNGA3	------------------------------>-<------------------------------
CNGA4	------------------------------>-<E-----------------------------	563
CNGB1	------------------------------>-<----A-------------------------	1180
CNGB3	------------------------------>-<----N-------------------------	737
HCN1	SPCSYTTAVCSPPVQSPLAARTFHYASPTA>S<QLSLMQ------------------------	731
HCN2	PPPGPAPAAASPG------------PPPPA>S<P-----------------------------	780
HCN3	SAWRSAGSPASPL------------VPVRA>G<PWASTS------------------------	669
HCN4	SPQAAQPSPAPPGARGGLGLPEHFLPPPPS>S<RSPSSSPGQLGQPPGELSLGLATGPLSTPE	995
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A990T	c.2968G>A	Putative Benign			SIFT: Polyphen: