Paralogue Annotation for KCNH2 residue 765

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 765
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 765

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3P505ACone-rod dystrophyHigh9 26992781

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.



KCNH2SLLQHCKPFRGATKGCLRALAMKFKTTHAP>P<GDTLVHAGDLLTALYFISRGSIEILRG-D-793
KCNH1KVFKEHPAFRLASDGCLRALAMEFQTVHCA>P<GDLIYHAGESVDSLCFVVSGSLEVIQD-D-632
KCNH3EVL-QLPLFEAASRGCLRALSLALRPAFCT>P<GEYLIHQGDALQALYFVCSGSMEVLKG-G-633
KCNH4EIL-QLPLFGAASRGCLRALSLHIKTSFCA>P<GEYLLRRGDALQAHYYVCSGSLEVLRD-N-607
KCNH5KVFNEHPAFRLASDGCLRALAVEFQTIHCA>P<GDLIYHAGESVDALCFVVSGSLEVIQD-D-601
KCNH6ALLQHCPAFSGAGKGCLRALAVKFKTTHAP>P<GDTLVHLGDVLSTLYFISRGSIEILRD-D-645
KCNH7TLLQNCKAFRGASKGCLRALAMKFKTTHAP>P<GDTLVHCGDVLTALYFLSRGSIEILKD-D-796
KCNH8EIL-QLSLFECASRGCLRSLSLHIKTSFCA>P<GEYLLRQGDALQAIYFVCSGSMEVLKD-S-602
CNGA1DTLKKVRIFADCEAGLLVELVLKLQPQVYS>P<GDYICKKGDIGREMYIIKEGKLAVVAD-D-530
CNGA2STLKKVRIFHDCEAGLLVELVLKLRPQVFS>P<GDYICRKGDIGKEMYIIKEGKLAVVAD-D-505
CNGA3DTLKKVRIFQDCEAGLLVELVLKLRPTVFS>P<GDYICKKGDIGKEMYIINEGKLAVVAD-D-533
CNGA4STLSRVQIFQNCEASLLEELVLKLQPQTYS>P<GEYVCRKGDIGQEMYIIREGQLAVVAD-D-399
CNGB1NIVSKVALFQGCDRQMIFDMLKRLRSVVYL>P<NDYVCKKGEIGREMYIIQAGQVQVLGGPDG1015
CNGB3SIISKVDLFKGCDTQMIYDMLLRLKSVLYL>P<GDFVCKKGEIGKEMYIIKHGEVQVLGGPDG577
HCN1KLVATMPLFANADPNFVTAMLSKLRFEVFQ>P<GDYIIREGAVGKKMYFIQHGVAGVITK-S-526
HCN2KLVASMPLFANADPNFVTAMLTKLKFEVFQ>P<GDYIIREGTIGKKMYFIQHGVVSVLTK-G-595
HCN3GLVAHMPLFAHADPSFVTAVLTKLRFEVFQ>P<GDLVVREGSVGRKMYFIQHGLLSVLAR-G-479
HCN4KLVASMPLFANADPNFVTSMLTKLRFEVFQ>P<GDYIIREGTIGKKMYFIQHGVVSVLTK-G-646
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P765Sc.2293C>T Putative BenignSIFT:
Polyphen: