Paralogue Annotation for KCNH2 residue 118

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 118
Reference Amino Acid: E - Glutamate
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 118

No paralogue variants have been mapped to residue 118 for KCNH2.

KCNH2	-----------------------PVK---N>E<DGAVIMFILNFEVVMEKDM-VG--------	139
KCNH1	-----------------------PIR---N>E<QDKVVLFLCTFSDITAFKQ-PI--------	140
KCNH3	-----------------------PIK---N>E<KGEVALFLVSHKDISETK-NRG--------	140
KCNH4	-----------------------PIK---N>E<MGEVVLFLFSFKDITQSGSPGL--------	141
KCNH5	-----------------------PIR---N>E<HEKVVLFLCTFKDITLFKQ-PI--------	138
KCNH6	-----------------------PVK---N>E<DGAVIMFILNFEDLAQL-------------	135
KCNH7	-----------------------PVK---N>Q<EGVAMMFIINFEYVTDNEN-AA--------	139
KCNH8	-----------------------PIK---N>E<KGDVVLFLASFKDITDTK-VKI--------	140
CNGA1	-----------------------PSQREQY>L<PGAIALFNVNNSSNKDQ-------------	100
CNGA2	------------------------FRRIVR>L<VGIIREWANKNFREEEP-------------	89
CNGA3	------------------------IARLSR>L<IFLLRRWAARHVHHQDQ-------------	93
CNGA4	------------------------------>-<---------------DT-------------	5
CNGB1	PARLVAWVLHRLEMALPQPVLHGKIG---E>Q<EPDSPGICDVQTISILPGG---QVEPDLVL	306
CNGB3	------------------------------>-<------------------------------
HCN1	------------------------------>-<------------GGGGGGG-GGG-------	72
HCN2	------------------------------>-<------------GAASGPA-PGP-------	138
HCN3	------------------------------>-<------------TAASGPI-PKS-------	40
HCN4	------------------------------>-<------------QPSVDTA-IKV-------	190
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E118K	c.352G>A	Putative Benign			SIFT: Polyphen: