Paralogue Annotation for KCNH2 residue 169

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 169
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 169

No paralogue variants have been mapped to residue 169 for KCNH2.

KCNH2	------TNHRGPPTSWLAPGRAKTFRLKLP>A<LLALTARESSVRSGGAGGAGAPGAVVVDVD	199
KCNH1	---------------------CKGWG---->-<------------------------------	149
KCNH3	---------------------WKETGGGRR>-<------------------------------	153
KCNH4	---------------------GRGDSNHEN>-<------------------------------	154
KCNH5	---------------------TKGWT---->-<------------------------------	147
KCNH6	----------------LAKCSSRSLSQRLL>S<QSFLGSEGSHGRPGGPG-------------	167
KCNH7	-------N----PILPIKTVNRKFFGFKFP>G<LRVLTYRKQSLPQEDPD------VVVIDS-	187
KCNH8	------------------------DKKEDK>-<------------------------------	149
CNGA1	------------------------------>-<------------------------------
CNGA2	------------------------------>-<------------------------------
CNGA3	------------------------------>-<------------------------------
CNGA4	------------------------------>-<------------------------------
CNGB1	LDSCVVSQVGVGQSEEDGTRPQSTSDQKLW>E<EVGEEAKKEAEEKAKEEAEEVAEEEAEKEP	437
CNGB3	-----------SRRNEEGSHPSNQSQQ--->-<TTAQEENKGEEKSLKTKSTPVTSEEPHTNI	69
HCN1	---------------------PAGG---F->-<------------------------------	81
HCN2	---------------------EAGSEEAG->-<------------------------------	150
HCN3	----------------------------G->-<------------------------------	41
HCN4	----------------------AAGDQIL->-<------------------------------	201
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A169G	c.506C>G	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715