Paralogue Annotation for KCNH2 residue 819

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 819
Reference Amino Acid: N - Asparagine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 819

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	T565M	Colour-blindness, total	Medium	9	11536077, 20079539, 24676353, 21268679

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	LGKNDIFGEPLNLYAR------P----GKS>N<GDVRALTYCDLHKIHRDDLLEVLDMYPEFS	849
KCNH1	LGKGDVFGDVFWKEAT------L----AQS>C<ANVRALTYCDLHVIKRDALQKVLEFYTAFS	688
KCNH3	LGKGDLIGCELPRREQ------V----VKA>N<ADVKGLTYCVLQCLQLAGLHDSLALYPEFA	689
KCNH4	LGKGDLIGADIPEPGQEPGLGADPNFVLKT>S<ADVKALTYCGLQQLSSRGLAEVLRLYPEYG	673
KCNH5	LGKGDVFGDIFWKETT------L----AHA>C<ANVRALTYCDLHIIKREALLKVLDFYTAFA	657
KCNH6	LGKNDIFGEPVSLHAQ------P----GKS>S<ADVRALTYCDLHKIQRADLLEVLDMYPAFA	701
KCNH7	LGKNDIFGEMVHLYAK------P----GKS>N<ADVRALTYCDLHKIQREDLLEVLDMYPEFS	852
KCNH8	LGKGDLIGANLSIKDQ------V----IKT>N<ADVKALTYCDLQCIILKGLFEVLDLYPEYA	658
CNGA1	LSDGSYFGEISILNIKGSKA--G----NRR>T<ANIKSIGYSDLFCLSKDDLMEALTEYPDAK	592
CNGA2	LSAGSCFGEISILNIKGSKM--G----NRR>T<ANIRSLGYSDLFCLSKDDLMEAVTEYPDAK	567
CNGA3	LSDGSYFGEISILNIKGSKS--G----NRR>T<ANIRSIGYSDLFCLSKDDLMEALTEYPEAK	595
CNGA4	LGAGLYFGEISIINIKGNMS--G----NRR>T<ANIKSLGYSDLFCLSKEDLREVLSEYPQAQ	461
CNGB1	LKAGSVFGEISLLAVGG-----G----NRR>T<ANVVAHGFTNLFILDKKDLNEILVHYPESQ	1073
CNGB3	LKAGSVFGEISLLAAGG-----G----NRR>T<ANVVAHGFANLLTLDKKTLQEILVHYPDSE	635
HCN1	LTDGSYFGEICLLTKG------------RR>T<ASVRADTYCRLYSLSVDNFNEVLEEYPMMR	580
HCN2	LSDGSYFGEICLLTRG------------RR>T<ASVRADTYCRLYSLSVDNFNEVLEEYPMMR	649
HCN3	LTDGSYFGEICLLTRG------------RR>T<ASVRADTYCRLYSLSVDHFNAVLEEFPMMR	533
HCN4	LADGSYFGEICLLTRG------------RR>T<ASVRADTYCRLYSLSVDNFNEVLEEYPMMR	700
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

There are currently no reported variants at residue 819 for KCNH2.