Paralogue Annotation for KCNH2 residue 895

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 895
Reference Amino Acid: T - Threonine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 895

No paralogue variants have been mapped to residue 895 for KCNH2.

KCNH2	GSTELE--------GGFSRQRKRKLSFRRR>T<DKDT--EQ-----PGEVSALGPGRAGAGPS	918
KCNH1	VKREEE--------ERMKRKNEAPLILPPD>H<PVRRLFQRF-----RQQKEARL-AAERGGR	759
KCNH3	--SSLS------------G-------D--N>T<LMSTLEEKE-----TDGEQG---P-TVSPA	744
KCNH4	--FSRS--------PRLSQPRSESLGSSSD>K<TLPSITEAE-----SGAEPGGGPRPR-RPL	744
KCNH5	VKKEEE--------ERLRQKNEVTLSIPVD>H<PVRKLFQKF-----KQQKELRNQGSTQGDP	729
KCNH6	HSSPRQ--------APGSQDHQGFFLSDNQ>S<GSPH--ELGPQFPSKGYSLLGPGSQNSMG-	771
KCNH7	SMNDSE--------GDNCKLRRRKLSFESE>G<EKE-------------NSTNDPEDSADTIR	918
KCNH8	--LSNK--------SMVSQSEPKGNGN-IN>K<RLPSIVEDE-----EEEEEGEEEEAVSLSP	729
CNGA1	PKDLEE--------K---VTRME--GSVDL>L<QTRFARILA-----EYESMQQKLKQRLTKV	662
CNGA2	EVDVQE--------K---LGQLE--TNMET>L<YTRFGRLLA-----EYTGAQQKLKQRITVL	636
CNGA3	PKDLEE--------K---VEQLG--SSLDT>L<QTRFARLLA-----EYNATQMKMKQRLSQL	665
CNGA4	LQEATE--------SR--LRGLD--QQLDD>L<QTKFARLLA-----ELESSALKIAYRIERL	532
CNGB1	--SVLILPPRAGTPKL--FNAA--LAMTGK>M<GGKGAKGGK-----LAHLRARLKELAALEA	1144
CNGB3	--LALLFPPKEETPKL--FKTL--LGGTGK>A<SL-----------------ARLLKLKREQA	699
HCN1	--KDLNT-------GVFNN-Q---ENEILK>Q<IVKHDREMV-----QAIAPINYPQMTTLNS	649
HCN2	--HDLNS-------GVFNN-Q---ENAIIQ>E<IVKYDREMV-----QQAELGQRVGLFPPPP	718
HCN3	--EPSPG-----------S-S---GGIMEQ>H<LVQHDRDMA-----RGVRGRAPSTGAQLSG	598
HCN4	--HDLNS-------GVFNY-Q---ENEIIQ>Q<IVQHDREMA-----HCAHRVQAAASATPTP	769
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See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T895M	c.2684C>T	Inherited Arrhythmia		rs199473434	SIFT: tolerated Polyphen: probably damaging
Reports		Other Cardiac Phenotype		Cardiac ion channel gene mutations in sudden infant death syndrome. Pediatr Res. 2008 64(5):482-7. 18596570
		Other Cardiac Phenotype		An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991
		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
		Other Cardiac Phenotype		Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594