Paralogue Annotation for KCNH2 residue 1018

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1018
Reference Amino Acid: P - Proline
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 1018

No paralogue variants have been mapped to residue 1018 for KCNH2.

KCNH2	-------------------RQYQELPRCPA>P<TP-SLLN----IPL-SSPGRRPRGDV-ESR	1041
KCNH1	----------------------KSEDWNKV>S<KA-ESME----TLP-E------RTKA-S--	869
KCNH3	-------------------PKFSFRVGQSG>P<E--CSSSPSPGPES-G----LLTVPH-GPS	870
KCNH4	-------------------PSFRFSRRPEL>P<RP-RSQA----PPT-GTRP-SPELAS-EAE	874
KCNH5	-------------------HEEKKEDWNNV>T<KA-ESMG----LLS-EDPKSSDSENS-V--	853
KCNH6	-------------------QGHASYILEAP>A<SN-DLAL----VPI-ASETTSPGPRL-P--	889
KCNH7	-------------------SALQRAAWGIS>E<T----------------ESDLTYGEV-EQR	1034
KCNH8	-------------------QTFDFGSERIR>S<EP-RISP-----PLGDPEIGAAVLFI-KAE	861
CNGA1	------------------------------>T<------------------------------	690
CNGA2	------------------------------>P<------------------------------	664
CNGA3	------------------------------>Q<------------------------------	694
CNGA4	-------------------GRASQEGPPGP>E<------------------------------	575
CNGB1	-------------------PRTPPEPP--->-<-----G------SP-PSSPPPAS-------	1204
CNGB3	-------------------GREPEEKPLDR>P<ECTA-S------PI-AVEEEPHS-------	769
HCN1	-----QQ-------------VQQSQPPQTQ>P<QQPS-PQPQTPG---S--STPKNEVH-KST	771
HCN2	-----A-P-------------ASPRAPR-->-<--TS--------------PYGGLPAAPLAG	805
HCN3	-----PP----------ARTLHASLSRAGR>S<Q-VSLLG--PP---------P---------	698
HCN4	GFTPRGGLSPPGHSPGPPRTFPSAPPRASG>S<H-GSLLL--PPASS-P--PPPQVPQR-RGT	1071
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1018S	c.3052C>T	Putative Benign		rs41313764	SIFT: tolerated Polyphen: benign
p.P1018A	c.3052C>G	Putative Benign		rs41313764	SIFT: tolerated Polyphen: benign