Paralogue Annotation for KCNH2 residue 456

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 456
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNH2 residue 456

No paralogue variants have been mapped to residue 456 for KCNH2.

KCNH2	PYSAAFLLKETEEGPPATECGYACQPLAVV>D<LIVDIMFIVDI-LINFRTTYVN-ANEEVVS	484
KCNH1	PYNVSFKTRQN------------NVAWLVV>D<SIVDVIFLVDI-VLNFHTTFVG-PAGEVIS	282
KCNH3	PYSVCVSTARE--------PSAARGPPSVC>D<LAVEVLFILDI-VLNFRTTFVS-KSGQVVF	293
KCNH4	PYNVCFSGDDD--------TPITSRHTLVS>D<IAVEMLFILDI-ILNFRTTYVS-QSGQVIS	295
KCNH5	PYNVSFKTKQN------------NIAWLVL>D<SVVDVIFLVDI-VLNFHTTFVG-PGGEVIS	279
KCNH6	PYSAAFLLSDQDE-SRRGACSYTCSPLTVV>D<LIVDIMFVVDI-VINFRTTYVN-TNDEVVS	332
KCNH7	PYSAAFLLNDREE-QKRRECGYSCSPLNVV>D<LIVDIMFIIDI-LINFRTTYVN-QNEEVVS	483
KCNH8	PYNVCFIGNDD--------LS-TTRSTTVS>D<IAVEILFIIDI-ILNFRTTYVS-KSGQVIF	289
CNGA1	IARACFDELQS----------DYLEYWLIL>D<YVSDIVYLIDM-FVRTRTGYLE--QGLLVK	231
CNGA2	VARACFSDLQK----------GYYLVWLVL>D<YVSDVVYIADL-FIRLRTGFLE--QGLLVK	206
CNGA3	ICRACFDELQS----------EYLMLWLVL>D<YSADVLYVLDV-LVRARTGFLE--QGLMVS	234
CNGA4	VCRACFPDLQH----------GYLVAWLVL>D<YTSDLLYLLDM-VVRFHTGFLE--QGILVV	100
CNGB1	PVRWAFPYQTP----------DNIHHWLLM>D<YLCDLIYFLDITVFQTRLQFVR--GGDIIT	723
CNGB3	PLRLVFPYQTA----------DNIHYWLIA>D<IICDIIYLYDMLFIQPRLQFVR--GGDIIV	285
HCN1	PVGITFFTEQT------------TTPWIIF>N<VASDTVFLLDL-IMNFRTGTVNEDSSEIIL	208
HCN2	PVGITFFKDET------------TAPWIVF>N<VVSDTFFLMDL-VLNFRTGIVIEDNTEIIL	277
HCN3	PVGITFFKEEN------------SPPWIVF>N<VLSDTFFLLDL-VLNFRTGIVVEEGAEILL	159
HCN4	PVGITFFKDEN------------TTPWIVF>N<VVSDTFFLIDL-VLNFRTGIVVEDNTEIIL	328
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See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D456Y	c.1366G>T	Inherited Arrhythmia	LQTS	rs199473510	SIFT: deleterious Polyphen: probably damaging
Reports		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	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
p.D456G	c.1367A>G	Putative Benign		rs192562741	SIFT: deleterious Polyphen: probably damaging