Paralogue Annotation for KCNH2 residue 83

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 83
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 83

No paralogue variants have been mapped to residue 83 for KCNH2.

KCNH2	YSRAEVMQRPCTCDFLHGPRTQRRAAAQ-I>A<Q-----------------------------	84
KCNH1	YHRAEVMQKSSTCSFMYGELTDKDTIEK-V>R<Q-----------------------------	85
KCNH3	FSRAEVMQRGCACSFLYGPDTSELVRQQ-I>R<K-----------------------------	85
KCNH4	YGRTEVMQKTCSCRFLYGPETSEPALQR-L>H<K-----------------------------	85
KCNH5	YHRADVMQKSSTCSFMYGELTDKKTIEK-V>R<Q-----------------------------	83
KCNH6	YSRVEVMQQPCTCDFLTGPNTPSSAVSR-L>A<Q-----------------------------	84
KCNH7	FSRPDVMQKPCTCDFLHGPETKRHDIAQ-I>A<Q-----------------------------	84
KCNH8	FARTEVMQKSCSCKFLFGVETNEQLMLQ-I>E<K-----------------------------	85
CNGA1	---------------------------G-A>C<S-----------------------------	40
CNGA2	--PPA-----------IKANGK-DDHRT-S>S<R-----------------------------	37
CNGA3	----------------RDLNRA-EN--G-L>S<R-----------------------------	34
CNGA4	------------------------------>-<------------------------------
CNGB1	---------DPAQILGHGSTGDTGCTDE-P>N<E-----------------------------	145
CNGB3	------------------------------>-<------------------------------
HCN1	------------------------------>-<---------------------------SSN	12
HCN2	------------------------------>-<---------------------------SPG	15
HCN3	------------------------------>-<-------------------------GASEG	14
HCN4	GGRQDPSRRSIRLRPLPSPSPSAAAGGTES>R<SSALGAADSEGPARGAGKSSTNGDCRRFRG	98
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Ala83Pro	c.247G>C	Unknown			SIFT: Polyphen: