Paralogue Annotation for KCNH2 residue 512

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 512
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNH2 residue 512

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	Y263D	Achromatopsia	Medium	9	15712225

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	VSHPGRIAVHYFKGW-FLIDMVAAIPFDLL>I<FGSGSEE-----------------------	519
KCNH1	ISDPKLIRMNYLKTW-FVIDLLSCLPYDVI>N<AFENVDEVSAFMGDPGKIGFADQ---IPPP	337
KCNH3	VFAPKSICLHYVTTW-FLLDVIAALPFDLL>H<AF-KVN----------------V---Y---	328
KCNH4	ISAPRSIGLHYLATW-FFIDLIAALPFDLL>Y<IF-NIT----------------V---T---	330
KCNH5	ISDPKLIRMNYLKTW-FVIDLLSCLPYDII>N<AFENVDEG----------------------	315
KCNH6	VSHPRRIAVHYFKGW-FLIDMVAAIPFDLL>I<FRTGSDE---------------T---T---	369
KCNH7	VSDPAKIAIHYFKGW-FLIDMVAAIPFDLL>I<FGSGSDE---------------T---T---	520
KCNH8	IFEARSICIHYVTTW-FIIDLIAALPFDLL>Y<AF-NVT----------------V---V---	324
CNGA1	VKEELKLINKYKSNLQFKLDVLSLIPTDLL>Y<FKLGWNY-----------------------	267
CNGA2	VKDTKKLRDNYIHTLQFKLDVASIIPTDLI>Y<FAVDIHS-----------------------	242
CNGA3	VSDTNRLWQHYKTTTQFKLDVLSLVPTDLA>Y<LKVGTNY-----------------------	270
CNGA4	VVDKGRISSRYVRTWSFFLDLASLMPTDVV>Y<VRLGPHT-----------------------	136
CNGB1	ITDKKDMRNNYLKSRRFKMDLLSLLPLDFL>Y<LKVGVN------------------------	758
CNGB3	IVDSNELRKHYRTSTKFQLDVASIIPFDIC>Y<LFFGFN------------------------	320
HCN1	ILDPKVIKMNYLKSW-FVVDFISSIPVDYI>F<LIVEK--GMDSEVYKTARALR-IVRFT---	260
HCN2	ILDPEKIKKKYLRTW-FVVDFVSSIPVDYI>F<LIVEK--GIDSEVYKTARALR-IVRFT---	329
HCN3	LLAPRAIRTRYLRTW-FLVDLISSIPVDYI>F<LVVELEPRLDAEVYKTARALR-IVRFT---	213
HCN4	ILDPQRIKMKYLKSW-FMVDFISSIPVDYI>F<LIVET--RIDSEVYKTARALR-IVRFT---	380
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I512V	c.1534A>G	Benign			SIFT: deleterious Polyphen: probably damaging