Paralogue Annotation for KCNH2 residue 799

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 799
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 799

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	L541F	Achromatopsia	High	7	24504161

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.

KCNH2	DLLTALYFISRGSIEILRG-D--V--VVAI>L<GKNDIFGEPLNLYAR------P----GKSN	819
KCNH1	ESVDSLCFVVSGSLEVIQD-D--E--VVAI>L<GKGDVFGDVFWKEAT------L----AQSC	658
KCNH3	DALQALYFVCSGSMEVLKG-G--T--VLAI>L<GKGDLIGCELPRREQ------V----VKAN	659
KCNH4	DALQAHYYVCSGSLEVLRD-N--M--VLAI>L<GKGDLIGADIPEPGQEPGLGADPNFVLKTS	643
KCNH5	ESVDALCFVVSGSLEVIQD-D--E--VVAI>L<GKGDVFGDIFWKETT------L----AHAC	627
KCNH6	DVLSTLYFISRGSIEILRD-D--V--VVAI>L<GKNDIFGEPVSLHAQ------P----GKSS	671
KCNH7	DVLTALYFLSRGSIEILKD-D--I--VVAI>L<GKNDIFGEMVHLYAK------P----GKSN	822
KCNH8	DALQAIYFVCSGSMEVLKD-S--M--VLAI>L<GKGDLIGANLSIKDQ------V----IKTN	628
CNGA1	DIGREMYIIKEGKLAVVAD-D--GVTQFVV>L<SDGSYFGEISILNIKGSKA--G----NRRT	562
CNGA2	DIGKEMYIIKEGKLAVVAD-D--GVTQYAL>L<SAGSCFGEISILNIKGSKM--G----NRRT	537
CNGA3	DIGKEMYIINEGKLAVVAD-D--GVTQFVV>L<SDGSYFGEISILNIKGSKS--G----NRRT	565
CNGA4	DIGQEMYIIREGQLAVVAD-D--GITQYAV>L<GAGLYFGEISIINIKGNMS--G----NRRT	431
CNGB1	EIGREMYIIQAGQVQVLGGPDGKS--VLVT>L<KAGSVFGEISLLAVGG-----G----NRRT	1043
CNGB3	EIGKEMYIIKHGEVQVLGGPDGTK--VLVT>L<KAGSVFGEISLLAAGG-----G----NRRT	605
HCN1	AVGKKMYFIQHGVAGVITK-S--S--KEMK>L<TDGSYFGEICLLTKG------------RRT	550
HCN2	TIGKKMYFIQHGVVSVLTK-G--N--KEMK>L<SDGSYFGEICLLTRG------------RRT	619
HCN3	SVGRKMYFIQHGLLSVLAR-G--A--RDTR>L<TDGSYFGEICLLTRG------------RRT	503
HCN4	TIGKKMYFIQHGVVSVLTK-G--N--KETK>L<ADGSYFGEICLLTRG------------RRT	670
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Leu799Pro	c.2396T>C	Unknown			SIFT: Polyphen: