Paralogue Annotation for KCNH2 residue 770

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 770
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 770

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3C510SColour-blindness, totalMedium9 11536077

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.



KCNH2CKPFRGATKGCLRALAMKFKTTHAPPGDTL>V<HAGDLLTALYFISRGSIEILRG-D--V--V795
KCNH1HPAFRLASDGCLRALAMEFQTVHCAPGDLI>Y<HAGESVDSLCFVVSGSLEVIQD-D--E--V634
KCNH3LPLFEAASRGCLRALSLALRPAFCTPGEYL>I<HQGDALQALYFVCSGSMEVLKG-G--T--V635
KCNH4LPLFGAASRGCLRALSLHIKTSFCAPGEYL>L<RRGDALQAHYYVCSGSLEVLRD-N--M--V609
KCNH5HPAFRLASDGCLRALAVEFQTIHCAPGDLI>Y<HAGESVDALCFVVSGSLEVIQD-D--E--V603
KCNH6CPAFSGAGKGCLRALAVKFKTTHAPPGDTL>V<HLGDVLSTLYFISRGSIEILRD-D--V--V647
KCNH7CKAFRGASKGCLRALAMKFKTTHAPPGDTL>V<HCGDVLTALYFLSRGSIEILKD-D--I--V798
KCNH8LSLFECASRGCLRSLSLHIKTSFCAPGEYL>L<RQGDALQAIYFVCSGSMEVLKD-S--M--V604
CNGA1VRIFADCEAGLLVELVLKLQPQVYSPGDYI>C<KKGDIGREMYIIKEGKLAVVAD-D--GVTQ534
CNGA2VRIFHDCEAGLLVELVLKLRPQVFSPGDYI>C<RKGDIGKEMYIIKEGKLAVVAD-D--GVTQ509
CNGA3VRIFQDCEAGLLVELVLKLRPTVFSPGDYI>C<KKGDIGKEMYIINEGKLAVVAD-D--GVTQ537
CNGA4VQIFQNCEASLLEELVLKLQPQTYSPGEYV>C<RKGDIGQEMYIIREGQLAVVAD-D--GITQ403
CNGB1VALFQGCDRQMIFDMLKRLRSVVYLPNDYV>C<KKGEIGREMYIIQAGQVQVLGGPDGKS--V1018
CNGB3VDLFKGCDTQMIYDMLLRLKSVLYLPGDFV>C<KKGEIGKEMYIIKHGEVQVLGGPDGTK--V580
HCN1MPLFANADPNFVTAMLSKLRFEVFQPGDYI>I<REGAVGKKMYFIQHGVAGVITK-S--S--K528
HCN2MPLFANADPNFVTAMLTKLKFEVFQPGDYI>I<REGTIGKKMYFIQHGVVSVLTK-G--N--K597
HCN3MPLFAHADPSFVTAVLTKLRFEVFQPGDLV>V<REGSVGRKMYFIQHGLLSVLAR-G--A--R481
HCN4MPLFANADPNFVTSMLTKLRFEVFQPGDYI>I<REGTIGKKMYFIQHGVVSVLTK-G--N--K648
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V770Ac.2309T>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
Inherited ArrhythmiaLQTS Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810