Paralogue Annotation for KCNH2 residue 101

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 101
Reference Amino Acid: K - Lysine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 101

No paralogue variants have been mapped to residue 101 for KCNH2.

KCNH2	--------GAEE-R-------KVE-IAFYR>K<-----------DGS----------------	104
KCNH1	--------NYEM-N-------SFE-ILMYK>K<-----------NRT----------------	105
KCNH3	--------EHKE-F-------KAE-LILYR>K<-----------SGL----------------	105
KCNH4	--------GHQE-H-------RAE-ICFYR>K<-----------DGS----------------	105
KCNH5	--------NYES-N-------CFE-VLLYK>K<-----------NRT----------------	103
KCNH6	--------GAEE-C-------KVD-ILYYR>K<-----------DAS----------------	104
KCNH7	--------GSEE-R-------KVE-VTYYH>K<-----------NGS----------------	104
KCNH8	--------EKTE-F-------KGE-IMFYK>K<-----------NGS----------------	105
CNGA1	--------EDDD-SASTSEESENEN-PHA->R<-----------GSF----------------	66
CNGA2	--------AADDDTSSE---------LQR->L<-----------ADV----------------	56
CNGA3	--------SSEE-TSSVLQPGIAME-TRG->L<-----------ADS----------------	60
CNGA4	------------------------------>-<------------------------------
CNGB1	--------AQDT-R-------PGLRLLLWL>E<QNLERVLPQPPKSSEVWRDEPAVATGAASD	193
CNGB3	------------------------------>-<------------------------------
HCN1	TPPGGGGAGAKE-H-------GNS-VCFKV>D<------------------------------	62
HCN2	PQCSPAGPEGPA-R-------GPK-VSFSC>R<------------------------------	128
HCN3	--------------------------APPP>A<------------------------------	30
HCN4	---------------------------ASC>E<------------------------------	180
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K101E	c.301A>G	Inherited Arrhythmia	LQTS	rs199472856	SIFT: deleterious Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. Clin Chem. 2001 47(8):1390-5. 11468227
		Inherited Arrhythmia	LQTS	Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. Hum Mutat. 2001 18(5):451-7. 11668638
		Other Cardiac Phenotype		Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome. Am J Cardiol. 2005 95(3):433-4. 15670565
		Inherited Arrhythmia	LQTS	Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. BMC Med Genet. 2014 15:31. doi: 10.1186/1471-2350-15-31. 24606995
		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
p.Lys101Asn	c.303A>T	Unknown			SIFT: Polyphen: