Paralogue Annotation for KCNH2 residue 436

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 436
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNH2 residue 436

No paralogue variants have been mapped to residue 436 for KCNH2.

KCNH2	KA-VWDWLILLLVIYTAVFTPYSAAFLLKE>T<EEGPPATECGYACQPLAVVDLIVDIMFIVD	466
KCNH1	KT-TWDWIILILTFYTAILVPYNVSFKTRQ>N<------------NVAWLVVDSIVDVIFLVD	264
KCNH3	RA-TWDGFILLATLYVAVTVPYSVCVSTAR>E<--------PSAARGPPSVCDLAVEVLFILD	275
KCNH4	KA-IWDGLILLATFYVAVTVPYNVCFSGDD>D<--------TPITSRHTLVSDIAVEMLFILD	277
KCNH5	KT-TWDWVILILTFYTAIMVPYNVSFKTKQ>N<------------NIAWLVLDSVVDVIFLVD	261
KCNH6	KA-VWDWLILLLVIYTAVFTPYSAAFLLSD>Q<DE-SRRGACSYTCSPLTVVDLIVDIMFVVD	314
KCNH7	KA-VWDWLILLLVIYTAIFTPYSAAFLLND>R<EE-QKRRECGYSCSPLNVVDLIVDIMFIID	465
KCNH8	KA-GWDWLILLATFYVAVTVPYNVCFIGND>D<--------LS-TTRSTTVSDIAVEILFIID	271
CNGA1	YY-NWLFCITLPVMYNWTMVIARACFDELQ>S<----------DYLEYWLILDYVSDIVYLID	214
CNGA2	YY-CWLFVIAMPVLYNWCLLVARACFSDLQ>K<----------GYYLVWLVLDYVSDVVYIAD	189
CNGA3	YY-RWLTAIALPVFYNWYLLICRACFDELQ>S<----------EYLMLWLVLDYSADVLYVLD	217
CNGA4	YY-WWLNTMVFPVMYNLIILVCRACFPDLQ>H<----------GYLVAWLVLDYTSDLLYLLD	83
CNGB1	MYVLWLFFVVMAWNWNCWLIPVRWAFPYQT>P<----------DNIHHWLLMDYLCDLIYFLD	705
CNGB3	LYLLWLLLVTLAYNWNCCFIPLRLVFPYQT>A<----------DNIHYWLIADIICDIIYLYD	267
HCN1	RF-YWDLIMLIMMVGNLVIIPVGITFFTEQ>T<------------TTPWIIFNVASDTVFLLD	189
HCN2	RF-YWDFTMLLFMVGNLIIIPVGITFFKDE>T<------------TAPWIVFNVVSDTFFLMD	258
HCN3	RF-YWDLIMLLLMVGNLIVLPVGITFFKEE>N<------------SPPWIVFNVLSDTFFLLD	140
HCN4	RF-YWDLTMLLLMVGNLIIIPVGITFFKDE>N<------------TTPWIVFNVVSDTFFLID	309
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T436M	c.1307C>T	Inherited Arrhythmia	LQTS,AF	rs199472901	SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Low penetrance in the long-QT syndrome: clinical impact. Circulation. 1999 99(4):529-33. 9927399
		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	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	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
		Inherited Arrhythmia	AF	Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation. Circ Arrhythm Electrophysiol. 2015 26129877
		Inherited Arrhythmia	AF	Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation. Circ Arrhythm Electrophysiol. 2015 26129877