Paralogue Annotation for KCNH2 residue 26

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 26
Reference Amino Acid: S - Serine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 26

No paralogue variants have been mapped to residue 26 for KCNH2.

KCNH2	--G-HVAPQNTFLDTI---IR----KFEGQ>S<RK-----------FIIANA-RVEN-CAVI-	42
KCNH1	--G-LVAPQNTFLENI---VR----RS--N>D<TN-----------FVLGNA-QIVD-WPIV-	43
KCNH3	--G-LLAPQNTFLDTI---AT----RFDGT>H<SN-----------FVLGNA-QVAGLFPVV-	43
KCNH4	--G-LLAPQNTFLDTI---AT----RFDGT>H<SN-----------FLLANA-QGTRGFPIV-	43
KCNH5	--G-LVAPQNTFLENI---VR----RS--S>E<SS-----------FLLGNA-QIVD-WPVV-	41
KCNH6	--G-HVAPQNTYLDTI---IR----KFEGQ>S<RK-----------FLIANA-QMEN-CAII-	42
KCNH7	--G-HVAPQNTFLGTI---IR----KFEGQ>N<KK-----------FIIANA-RVQN-CAII-	42
KCNH8	--G-LLAPQNTFLDTI---AT----RFDGT>H<SN-----------FILANA-QVAKGFPIV-	43
CNGA1	--NNIINTQQSFVTMPNVIVP----DIEKE>-<-----------I----------------R-	32
CNGA2	-----TNGVK--------SSP----AN--->-<------------------------------	14
CNGA3	-----INTQY--------SHP----SRTH->-<-----------L----------------KV	18
CNGA4	------------------------------>-<------------------------------
CNGB1	---ADPSPQETKEAAL---TSTISLRAQGA>E<ISEMNSPSRRVLTWLMKGVEKVIP-QPVH-	119
CNGB3	------------------------------>-<------------------------------
HCN1	--------------------------GKPN>S<------------------------------	9
HCN2	-------------RG-----G----GGRPG>E<------------------------------	12
HCN3	--------------------------QRPA>A<------------------------------	9
HCN4	MRKRLYSLPQQVGAK-----A----WIMDE>E<------------------------------	29
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S26I	c.77G>T	Inherited Arrhythmia	LQTS	rs199472827	SIFT: deleterious Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472
		Inherited Arrhythmia	LQTS	Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117
		Inherited Arrhythmia	LQTS	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
		Inherited Arrhythmia	LQTS	Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429
		Inherited Arrhythmia	LQTS	Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810