Paralogue Annotation for KCNH2 residue 115

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 115
Reference Amino Acid: V - Valine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 115

No paralogue variants have been mapped to residue 115 for KCNH2.

KCNH2	-----------------------------P>V<K---NEDGAVIMFILNFEVVMEKDM-VG--	139
KCNH1	-----------------------------P>I<R---NEQDKVVLFLCTFSDITAFKQ-PI--	140
KCNH3	-----------------------------P>I<K---NEKGEVALFLVSHKDISETK-NRG--	140
KCNH4	-----------------------------P>I<K---NEMGEVVLFLFSFKDITQSGSPGL--	141
KCNH5	-----------------------------P>I<R---NEHEKVVLFLCTFKDITLFKQ-PI--	138
KCNH6	-----------------------------P>V<K---NEDGAVIMFILNFEDLAQL-------	135
KCNH7	-----------------------------P>V<K---NQEGVAMMFIINFEYVTDNEN-AA--	139
KCNH8	-----------------------------P>I<K---NEKGDVVLFLASFKDITDTK-VKI--	140
CNGA1	-----------------------------P>S<QREQYLPGAIALFNVNNSSNKDQ-------	100
CNGA2	------------------------------>F<RRIVRLVGIIREWANKNFREEEP-------	89
CNGA3	------------------------------>I<ARLSRLIFLLRRWAARHVHHQDQ-------	93
CNGA4	------------------------------>-<---------------------DT-------	5
CNGB1	LPPTRDPARLVAWVLHRLEMALPQPVLHGK>I<G---EQEPDSPGICDVQTISILPGG---QV	300
CNGB3	------------------------------>-<------------------------------
HCN1	------------------------------>-<------------------GGGGGGG-GGG-	72
HCN2	------------------------------>-<------------------GAASGPA-PGP-	138
HCN3	------------------------------>-<------------------TAASGPI-PKS-	40
HCN4	------------------------------>-<------------------QPSVDTA-IKV-	190
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V115M	c.343G>A	Inherited Arrhythmia	LQTS	rs150988911	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445
		Inherited Arrhythmia	LQTS	Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113
		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
		Unknown		Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
p.Val115Gly	c.344T>G	Unknown			SIFT: Polyphen: