Paralogue Annotation for KCNH2 residue 1020

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1020
Reference Amino Acid: P - Proline
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 1020

No paralogue variants have been mapped to residue 1020 for KCNH2.

KCNH2	-----------------RQYQELPRCPAPT>P<-SLLN----IPL-SSPGRRPRGDV-ESRLD	1043
KCNH1	--------------------KSEDWNKVSK>A<-ESME----TLP-E------RTKA-S----	869
KCNH3	-----------------PKFSFRVGQSGPE>-<-CSSSPSPGPES-G----LLTVPH-GPSEA	872
KCNH4	-----------------PSFRFSRRPELPR>P<-RSQA----PPT-GTRP-SPELAS-EAEEV	876
KCNH5	-----------------HEEKKEDWNNVTK>A<-ESMG----LLS-EDPKSSDSENS-V----	853
KCNH6	-----------------QGHASYILEAPAS>N<-DLAL----VPI-ASETTSPGPRL-P----	889
KCNH7	-----------------SALQRAAWGISET>-<---------------ESDLTYGEV-EQRLD	1036
KCNH8	-----------------QTFDFGSERIRSE>P<-RISP-----PLGDPEIGAAVLFI-KAEET	863
CNGA1	----------------------------T->-<------------------------------	690
CNGA2	----------------------------P->-<------------------------------	664
CNGA3	----------------------------Q->-<------------------------------	694
CNGA4	-----------------GRASQEGPPGPE->-<------------------------------	575
CNGB1	-----------------PRTPPEPP----->-<---G------SP-PSSPPPAS---------	1204
CNGB3	-----------------GREPEEKPLDRPE>C<TA-S------PI-AVEEEPHS---------	769
HCN1	---QQ-------------VQQSQPPQTQPQ>Q<PS-PQPQTPG---S--STPKNEVH-KSTQA	773
HCN2	---A-P-------------ASPRAPR---->-<TS--------------PYGGLPAAPLAGPA	807
HCN3	---PP----------ARTLHASLSRAGRSQ>-<VSLLG--PP---------P----------G	699
HCN4	TPRGGLSPPGHSPGPPRTFPSAPPRASGSH>-<GSLLL--PPASS-P--PPPQVPQR-RGTPP	1073
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See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1020L	c.3059C>T	Putative Benign		rs41313761	SIFT: tolerated Polyphen: possibly damaging
p.P1020S	c.3058C>T	Putative Benign		rs41307274	SIFT: tolerated Polyphen: possibly damaging