Paralogue Annotation for KCNH2 residue 161

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 161
Reference Amino Acid: K - Lysine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 161

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
HCN4	A195V	Sudden infant death syndrome	Low	1	23623143

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	--------------TNHRGPPTSWLAPGRA>K<TFRLKLPALLALTARESSVRSGGAGGAGAP	191
KCNH1	-----------------------------C>K<GWG---------------------------	149
KCNH3	-----------------------------W>K<ETGGGRR-----------------------	153
KCNH4	-----------------------------G>R<GDSNHEN-----------------------	154
KCNH5	-----------------------------T>K<GWT---------------------------	147
KCNH6	------------------------LAKCSS>R<SLSQRLLSQSFLGSEGSHGRPGGPG-----	167
KCNH7	---------------N----PILPIKTVNR>K<FFGFKFPGLRVLTYRKQSLPQEDPD-----	181
KCNH8	------------------------------>-<-DKKEDK-----------------------	149
CNGA1	------------------------------>-<------------------------------
CNGA2	------------------------------>-<------------------------------
CNGA3	------------------------------>-<------------------------------
CNGA4	------------------------------>-<------------------------------
CNGB1	EEEVTEVLLDSCVVSQVGVGQSEEDGTRPQ>S<TSDQKLWEEVGEEAKKEAEEKAKEEAEEVA	429
CNGB3	-------------------SRRNEEGSHPS>N<QSQQ----TTAQEENKGEEKSLKTKSTPVT	61
HCN1	-----------------------------P>A<GG---F------------------------	81
HCN2	-----------------------------E>A<GSEEAG------------------------	150
HCN3	------------------------------>-<-----G------------------------	41
HCN4	------------------------------>A<AGDQIL------------------------	201
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K161N	c.483G>T	Unknown			SIFT: deleterious Polyphen: benign