No paralogue variants have been mapped to residue 771 for KCNH2.
| KCNH2 | KPFRGATKGCLRALAMKFKTTHAPPGDTLV>H<AGDLLTALYFISRGSIEILRG-D--V--VV | 796 |
| KCNH1 | PAFRLASDGCLRALAMEFQTVHCAPGDLIY>H<AGESVDSLCFVVSGSLEVIQD-D--E--VV | 635 |
| KCNH3 | PLFEAASRGCLRALSLALRPAFCTPGEYLI>H<QGDALQALYFVCSGSMEVLKG-G--T--VL | 636 |
| KCNH4 | PLFGAASRGCLRALSLHIKTSFCAPGEYLL>R<RGDALQAHYYVCSGSLEVLRD-N--M--VL | 610 |
| KCNH5 | PAFRLASDGCLRALAVEFQTIHCAPGDLIY>H<AGESVDALCFVVSGSLEVIQD-D--E--VV | 604 |
| KCNH6 | PAFSGAGKGCLRALAVKFKTTHAPPGDTLV>H<LGDVLSTLYFISRGSIEILRD-D--V--VV | 648 |
| KCNH7 | KAFRGASKGCLRALAMKFKTTHAPPGDTLV>H<CGDVLTALYFLSRGSIEILKD-D--I--VV | 799 |
| KCNH8 | SLFECASRGCLRSLSLHIKTSFCAPGEYLL>R<QGDALQAIYFVCSGSMEVLKD-S--M--VL | 605 |
| CNGA1 | RIFADCEAGLLVELVLKLQPQVYSPGDYIC>K<KGDIGREMYIIKEGKLAVVAD-D--GVTQF | 535 |
| CNGA2 | RIFHDCEAGLLVELVLKLRPQVFSPGDYIC>R<KGDIGKEMYIIKEGKLAVVAD-D--GVTQY | 510 |
| CNGA3 | RIFQDCEAGLLVELVLKLRPTVFSPGDYIC>K<KGDIGKEMYIINEGKLAVVAD-D--GVTQF | 538 |
| CNGA4 | QIFQNCEASLLEELVLKLQPQTYSPGEYVC>R<KGDIGQEMYIIREGQLAVVAD-D--GITQY | 404 |
| CNGB1 | ALFQGCDRQMIFDMLKRLRSVVYLPNDYVC>K<KGEIGREMYIIQAGQVQVLGGPDGKS--VL | 1019 |
| CNGB3 | DLFKGCDTQMIYDMLLRLKSVLYLPGDFVC>K<KGEIGKEMYIIKHGEVQVLGGPDGTK--VL | 581 |
| HCN1 | PLFANADPNFVTAMLSKLRFEVFQPGDYII>R<EGAVGKKMYFIQHGVAGVITK-S--S--KE | 529 |
| HCN2 | PLFANADPNFVTAMLTKLKFEVFQPGDYII>R<EGTIGKKMYFIQHGVVSVLTK-G--N--KE | 598 |
| HCN3 | PLFAHADPSFVTAVLTKLRFEVFQPGDLVV>R<EGSVGRKMYFIQHGLLSVLAR-G--A--RD | 482 |
| HCN4 | PLFANADPNFVTSMLTKLRFEVFQPGDYII>R<EGTIGKKMYFIQHGVVSVLTK-G--N--KE | 649 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.H771R | c.2312A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC Cardiovasc Disord. 2012 12:95. doi: 10.1186/1471-2261-12-95. 23098067 | ||