Paralogue Annotation for KCNH2 residue 871

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 871
Reference Amino Acid: S - Serine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 871

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	A621E	Achromatopsia	Low	2	17265047

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	PEFSDHFWSSL--EIT-FNLRDTNM-IP-G>S<P---GSTELE--------GGFSRQRKRKLS	890
KCNH1	TAFSHSFSRNL--ILT-YNLRKRIV-FRKI>S<D---VKREEE--------ERMKRKNEAPLI	730
KCNH3	PEFAPRFSRGLRGELS-YNLGAGGG-SAEV>D<T-----SSLS------------G-------	720
KCNH4	PEYGAAFRAGLPRDLT-FNLRQGSD-TSGL>S<R-----FSRS--------PRLSQPRSESLG	715
KCNH5	TAFANSFSRNL--TLT-CNLRKRII-FRKI>S<D---VKKEEE--------ERLRQKNEVTLS	699
KCNH6	PAFAESFWSKL--EVT-FNLRDAAG-GL-->-<----HSSPRQ--------APGSQDHQGFFL	739
KCNH7	PEFSDHFLTNL--ELT-FNLRHESA-KA-D>L<LRSQSMNDSE--------GDNCKLRRRKLS	896
KCNH8	PEYAHKFVEDIQHDLT-YNLREGHE-SDVI>S<R-----LSNK--------SMVSQSEPKGNG	700
CNGA1	PDAKTMLEEKGKQILMKDGLLDLNI-ANAG>S<D---PKDLEE--------K---VTRME--G	632
CNGA2	PDAKKVLEERGREILMKEGLLDENE-VATS>-<M---EVDVQE--------K---LGQLE--T	606
CNGA3	PEAKKALEEKGRQILMKDNLIDEEL-ARAG>A<D---PKDLEE--------K---VEQLG--S	635
CNGA4	PQAQTIMEEKGREILLKMNKLDVNA-EAAE>I<A---LQEATE--------SR--LRGLD--Q	502
CNGB1	PESQKLLRKKARRMLRSNNKPK------EE>-<K-----SVLILPPRAGTPKL--FNAA--LA	1114
CNGB3	PDSERILMKKARVLLKQKAKTA-EATPPRK>-<D-----LALLFPPKEETPKL--FKTL--LG	681
HCN1	PMMRRAFETVAIDRLDRIGKKNSIL-LQKF>Q<------KDLNT-------GVFNN-Q---EN	619
HCN2	PMMRRAFETVAIDRLDRIGKKNSIL-LHKV>Q<------HDLNS-------GVFNN-Q---EN	688
HCN3	PMMRRAFETVAMDRLLRIGKKNSIL-QRKR>S<------EPSPG-----------S-S---GG	568
HCN4	PMMRRAFETVALDRLDRIGKKNSIL-LHKV>Q<------HDLNS-------GVFNY-Q---EN	739
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

There are currently no reported variants at residue 871 for KCNH2.