Paralogue Annotation for KCNH2 residue 474

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 474
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNH2 residue 474

No paralogue variants have been mapped to residue 474 for KCNH2.

KCNH2	CGYACQPLAVVDLIVDIMFIVDI-LINFRT>T<YVN-ANEEVVSHPGRIAVHYFKGW-FLIDM	502
KCNH1	----NVAWLVVDSIVDVIFLVDI-VLNFHT>T<FVG-PAGEVISDPKLIRMNYLKTW-FVIDL	300
KCNH3	PSAARGPPSVCDLAVEVLFILDI-VLNFRT>T<FVS-KSGQVVFAPKSICLHYVTTW-FLLDV	311
KCNH4	TPITSRHTLVSDIAVEMLFILDI-ILNFRT>T<YVS-QSGQVISAPRSIGLHYLATW-FFIDL	313
KCNH5	----NIAWLVLDSVVDVIFLVDI-VLNFHT>T<FVG-PGGEVISDPKLIRMNYLKTW-FVIDL	297
KCNH6	CSYTCSPLTVVDLIVDIMFVVDI-VINFRT>T<YVN-TNDEVVSHPRRIAVHYFKGW-FLIDM	350
KCNH7	CGYSCSPLNVVDLIVDIMFIIDI-LINFRT>T<YVN-QNEEVVSDPAKIAIHYFKGW-FLIDM	501
KCNH8	LS-TTRSTTVSDIAVEILFIIDI-ILNFRT>T<YVS-KSGQVIFEARSICIHYVTTW-FIIDL	307
CNGA1	--DYLEYWLILDYVSDIVYLIDM-FVRTRT>G<YLE--QGLLVKEELKLINKYKSNLQFKLDV	250
CNGA2	--GYYLVWLVLDYVSDVVYIADL-FIRLRT>G<FLE--QGLLVKDTKKLRDNYIHTLQFKLDV	225
CNGA3	--EYLMLWLVLDYSADVLYVLDV-LVRART>G<FLE--QGLMVSDTNRLWQHYKTTTQFKLDV	253
CNGA4	--GYLVAWLVLDYTSDLLYLLDM-VVRFHT>G<FLE--QGILVVDKGRISSRYVRTWSFFLDL	119
CNGB1	--DNIHHWLLMDYLCDLIYFLDITVFQTRL>Q<FVR--GGDIITDKKDMRNNYLKSRRFKMDL	742
CNGB3	--DNIHYWLIADIICDIIYLYDMLFIQPRL>Q<FVR--GGDIIVDSNELRKHYRTSTKFQLDV	304
HCN1	----TTPWIIFNVASDTVFLLDL-IMNFRT>G<TVNEDSSEIILDPKVIKMNYLKSW-FVVDF	226
HCN2	----TAPWIVFNVVSDTFFLMDL-VLNFRT>G<IVIEDNTEIILDPEKIKKKYLRTW-FVVDF	295
HCN3	----SPPWIVFNVLSDTFFLLDL-VLNFRT>G<IVVEEGAEILLAPRAIRTRYLRTW-FLVDL	177
HCN4	----TTPWIVFNVVSDTFFLIDL-VLNFRT>G<IVVEDNTEIILDPQRIKMKYLKSW-FMVDF	346
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T474I	c.1421C>T	Inherited Arrhythmia	LQTS	rs199472906	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. Circulation. 1997 95(3):565-7. 9024139
		Inherited Arrhythmia	LQTS	Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067
		Inherited Arrhythmia	LQTS	HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. J Biol Chem. 1998 273(33):21061-6. 9694858
		Inherited Arrhythmia	LQTS	An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164