Paralogue Annotation for KCNH2 residue 767

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 767
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 767

No paralogue variants have been mapped to residue 767 for KCNH2.



KCNH2LQHCKPFRGATKGCLRALAMKFKTTHAPPG>D<TLVHAGDLLTALYFISRGSIEILRG-D--V794
KCNH1FKEHPAFRLASDGCLRALAMEFQTVHCAPG>D<LIYHAGESVDSLCFVVSGSLEVIQD-D--E633
KCNH3L-QLPLFEAASRGCLRALSLALRPAFCTPG>E<YLIHQGDALQALYFVCSGSMEVLKG-G--T634
KCNH4L-QLPLFGAASRGCLRALSLHIKTSFCAPG>E<YLLRRGDALQAHYYVCSGSLEVLRD-N--M608
KCNH5FNEHPAFRLASDGCLRALAVEFQTIHCAPG>D<LIYHAGESVDALCFVVSGSLEVIQD-D--E602
KCNH6LQHCPAFSGAGKGCLRALAVKFKTTHAPPG>D<TLVHLGDVLSTLYFISRGSIEILRD-D--V646
KCNH7LQNCKAFRGASKGCLRALAMKFKTTHAPPG>D<TLVHCGDVLTALYFLSRGSIEILKD-D--I797
KCNH8L-QLSLFECASRGCLRSLSLHIKTSFCAPG>E<YLLRQGDALQAIYFVCSGSMEVLKD-S--M603
CNGA1LKKVRIFADCEAGLLVELVLKLQPQVYSPG>D<YICKKGDIGREMYIIKEGKLAVVAD-D--G531
CNGA2LKKVRIFHDCEAGLLVELVLKLRPQVFSPG>D<YICRKGDIGKEMYIIKEGKLAVVAD-D--G506
CNGA3LKKVRIFQDCEAGLLVELVLKLRPTVFSPG>D<YICKKGDIGKEMYIINEGKLAVVAD-D--G534
CNGA4LSRVQIFQNCEASLLEELVLKLQPQTYSPG>E<YVCRKGDIGQEMYIIREGQLAVVAD-D--G400
CNGB1VSKVALFQGCDRQMIFDMLKRLRSVVYLPN>D<YVCKKGEIGREMYIIQAGQVQVLGGPDGKS1017
CNGB3ISKVDLFKGCDTQMIYDMLLRLKSVLYLPG>D<FVCKKGEIGKEMYIIKHGEVQVLGGPDGTK579
HCN1VATMPLFANADPNFVTAMLSKLRFEVFQPG>D<YIIREGAVGKKMYFIQHGVAGVITK-S--S527
HCN2VASMPLFANADPNFVTAMLTKLKFEVFQPG>D<YIIREGTIGKKMYFIQHGVVSVLTK-G--N596
HCN3VAHMPLFAHADPSFVTAVLTKLRFEVFQPG>D<LVVREGSVGRKMYFIQHGLLSVLAR-G--A480
HCN4VASMPLFANADPNFVTSMLTKLRFEVFQPG>D<YIIREGTIGKKMYFIQHGVVSVLTK-G--N647
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D767Yc.2299G>T 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