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

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3A621EAchromatopsiaLow2 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.



KCNH2PEFSDHFWSSL--EIT-FNLRDTNM-IP-G>S<P---GSTELE--------GGFSRQRKRKLS890
KCNH1TAFSHSFSRNL--ILT-YNLRKRIV-FRKI>S<D---VKREEE--------ERMKRKNEAPLI730
KCNH3PEFAPRFSRGLRGELS-YNLGAGGG-SAEV>D<T-----SSLS------------G-------720
KCNH4PEYGAAFRAGLPRDLT-FNLRQGSD-TSGL>S<R-----FSRS--------PRLSQPRSESLG715
KCNH5TAFANSFSRNL--TLT-CNLRKRII-FRKI>S<D---VKKEEE--------ERLRQKNEVTLS699
KCNH6PAFAESFWSKL--EVT-FNLRDAAG-GL-->-<----HSSPRQ--------APGSQDHQGFFL739
KCNH7PEFSDHFLTNL--ELT-FNLRHESA-KA-D>L<LRSQSMNDSE--------GDNCKLRRRKLS896
KCNH8PEYAHKFVEDIQHDLT-YNLREGHE-SDVI>S<R-----LSNK--------SMVSQSEPKGNG700
CNGA1PDAKTMLEEKGKQILMKDGLLDLNI-ANAG>S<D---PKDLEE--------K---VTRME--G632
CNGA2PDAKKVLEERGREILMKEGLLDENE-VATS>-<M---EVDVQE--------K---LGQLE--T606
CNGA3PEAKKALEEKGRQILMKDNLIDEEL-ARAG>A<D---PKDLEE--------K---VEQLG--S635
CNGA4PQAQTIMEEKGREILLKMNKLDVNA-EAAE>I<A---LQEATE--------SR--LRGLD--Q502
CNGB1PESQKLLRKKARRMLRSNNKPK------EE>-<K-----SVLILPPRAGTPKL--FNAA--LA1114
CNGB3PDSERILMKKARVLLKQKAKTA-EATPPRK>-<D-----LALLFPPKEETPKL--FKTL--LG681
HCN1PMMRRAFETVAIDRLDRIGKKNSIL-LQKF>Q<------KDLNT-------GVFNN-Q---EN619
HCN2PMMRRAFETVAIDRLDRIGKKNSIL-LHKV>Q<------HDLNS-------GVFNN-Q---EN688
HCN3PMMRRAFETVAMDRLLRIGKKNSIL-QRKR>S<------EPSPG-----------S-S---GG568
HCN4PMMRRAFETVALDRLDRIGKKNSIL-LHKV>Q<------HDLNS-------GVFNY-Q---EN739
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

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