Paralogue Annotation for KCNH2 residue 290

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 290
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 290

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGB1	P530R	Retinitis pigmentosa	Low	1	23661369

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	-CSL----ARTRSRESCASVRRASSADDIE>A<M--------RAGVLPPPPRHASTGAMHPLR	312
KCNH1	------------------------------>-<------------------------------
KCNH3	--RY----GRAR------------------>-<------------------------------	159
KCNH4	--SL----GRRG------------------>-<------------------------------	160
KCNH5	------------------------------>-<------------------------------
KCNH6	------------------------------>-<------------------------------
KCNH7	-SQL----SHSRSRESLCSIRRASSVHDIE>G<FGVHPKNIFRDRHASEDNGRNVKGPFNHIK	311
KCNH8	--VK----GRSR------------------>-<------------------------------	155
CNGA1	------------------------------>-<------------------------------
CNGA2	------------------------------>-<------------------------------
CNGA3	------------------------------>-<------------------------------
CNGA4	------------------------------>-<------------------------------
CNGB1	THRKKLPSEDDEA-E---------ELKALS>P<AESPVVAWSDPTTPKDTDGQDRAASTASTN	560
CNGB3	------------------------EQKEMD>P<GKE------GPNSPQNK------PPAAPVI	124
HCN1	------------------------------>-<------------------------------
HCN2	------------------------------>-<------------------------------
HCN3	------------------------------>-<------------------------------
HCN4	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A290T	c.868G>A	Putative Benign			SIFT: deleterious Polyphen: benign
p.Ala290Ser	c.868G>T	Unknown			SIFT: Polyphen:
p.Ala290Pro	c.868G>C	Unknown			SIFT: Polyphen: