No paralogue variants have been mapped to residue 767 for KCNH2.
| KCNH2 | LQHCKPFRGATKGCLRALAMKFKTTHAPPG>D<TLVHAGDLLTALYFISRGSIEILRG-D--V | 794 |
| KCNH1 | FKEHPAFRLASDGCLRALAMEFQTVHCAPG>D<LIYHAGESVDSLCFVVSGSLEVIQD-D--E | 633 |
| KCNH3 | L-QLPLFEAASRGCLRALSLALRPAFCTPG>E<YLIHQGDALQALYFVCSGSMEVLKG-G--T | 634 |
| KCNH4 | L-QLPLFGAASRGCLRALSLHIKTSFCAPG>E<YLLRRGDALQAHYYVCSGSLEVLRD-N--M | 608 |
| KCNH5 | FNEHPAFRLASDGCLRALAVEFQTIHCAPG>D<LIYHAGESVDALCFVVSGSLEVIQD-D--E | 602 |
| KCNH6 | LQHCPAFSGAGKGCLRALAVKFKTTHAPPG>D<TLVHLGDVLSTLYFISRGSIEILRD-D--V | 646 |
| KCNH7 | LQNCKAFRGASKGCLRALAMKFKTTHAPPG>D<TLVHCGDVLTALYFLSRGSIEILKD-D--I | 797 |
| KCNH8 | L-QLSLFECASRGCLRSLSLHIKTSFCAPG>E<YLLRQGDALQAIYFVCSGSMEVLKD-S--M | 603 |
| CNGA1 | LKKVRIFADCEAGLLVELVLKLQPQVYSPG>D<YICKKGDIGREMYIIKEGKLAVVAD-D--G | 531 |
| CNGA2 | LKKVRIFHDCEAGLLVELVLKLRPQVFSPG>D<YICRKGDIGKEMYIIKEGKLAVVAD-D--G | 506 |
| CNGA3 | LKKVRIFQDCEAGLLVELVLKLRPTVFSPG>D<YICKKGDIGKEMYIINEGKLAVVAD-D--G | 534 |
| CNGA4 | LSRVQIFQNCEASLLEELVLKLQPQTYSPG>E<YVCRKGDIGQEMYIIREGQLAVVAD-D--G | 400 |
| CNGB1 | VSKVALFQGCDRQMIFDMLKRLRSVVYLPN>D<YVCKKGEIGREMYIIQAGQVQVLGGPDGKS | 1017 |
| CNGB3 | ISKVDLFKGCDTQMIYDMLLRLKSVLYLPG>D<FVCKKGEIGKEMYIIKHGEVQVLGGPDGTK | 579 |
| HCN1 | VATMPLFANADPNFVTAMLSKLRFEVFQPG>D<YIIREGAVGKKMYFIQHGVAGVITK-S--S | 527 |
| HCN2 | VASMPLFANADPNFVTAMLTKLKFEVFQPG>D<YIIREGTIGKKMYFIQHGVVSVLTK-G--N | 596 |
| HCN3 | VAHMPLFAHADPSFVTAVLTKLRFEVFQPG>D<LVVREGSVGRKMYFIQHGLLSVLAR-G--A | 480 |
| HCN4 | VASMPLFANADPNFVTSMLTKLRFEVFQPG>D<YIIREGTIGKKMYFIQHGVVSVLTK-G--N | 647 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D767Y | c.2299G>T | Inherited Arrhythmia | LQTS | rs199472993 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | 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 Arrhythmia | LQTS | 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 | |||