No paralogue variants have been mapped to residue 783 for KCNH2.
| KCNH2 | ALAMKFKTTHAPPGDTLVHAGDLLTALYFI>S<RGSIEILRG-D--V--VVAILGKNDIFGEP | 808 |
| KCNH1 | ALAMEFQTVHCAPGDLIYHAGESVDSLCFV>V<SGSLEVIQD-D--E--VVAILGKGDVFGDV | 647 |
| KCNH3 | ALSLALRPAFCTPGEYLIHQGDALQALYFV>C<SGSMEVLKG-G--T--VLAILGKGDLIGCE | 648 |
| KCNH4 | ALSLHIKTSFCAPGEYLLRRGDALQAHYYV>C<SGSLEVLRD-N--M--VLAILGKGDLIGAD | 622 |
| KCNH5 | ALAVEFQTIHCAPGDLIYHAGESVDALCFV>V<SGSLEVIQD-D--E--VVAILGKGDVFGDI | 616 |
| KCNH6 | ALAVKFKTTHAPPGDTLVHLGDVLSTLYFI>S<RGSIEILRD-D--V--VVAILGKNDIFGEP | 660 |
| KCNH7 | ALAMKFKTTHAPPGDTLVHCGDVLTALYFL>S<RGSIEILKD-D--I--VVAILGKNDIFGEM | 811 |
| KCNH8 | SLSLHIKTSFCAPGEYLLRQGDALQAIYFV>C<SGSMEVLKD-S--M--VLAILGKGDLIGAN | 617 |
| CNGA1 | ELVLKLQPQVYSPGDYICKKGDIGREMYII>K<EGKLAVVAD-D--GVTQFVVLSDGSYFGEI | 547 |
| CNGA2 | ELVLKLRPQVFSPGDYICRKGDIGKEMYII>K<EGKLAVVAD-D--GVTQYALLSAGSCFGEI | 522 |
| CNGA3 | ELVLKLRPTVFSPGDYICKKGDIGKEMYII>N<EGKLAVVAD-D--GVTQFVVLSDGSYFGEI | 550 |
| CNGA4 | ELVLKLQPQTYSPGEYVCRKGDIGQEMYII>R<EGQLAVVAD-D--GITQYAVLGAGLYFGEI | 416 |
| CNGB1 | DMLKRLRSVVYLPNDYVCKKGEIGREMYII>Q<AGQVQVLGGPDGKS--VLVTLKAGSVFGEI | 1031 |
| CNGB3 | DMLLRLKSVLYLPGDFVCKKGEIGKEMYII>K<HGEVQVLGGPDGTK--VLVTLKAGSVFGEI | 593 |
| HCN1 | AMLSKLRFEVFQPGDYIIREGAVGKKMYFI>Q<HGVAGVITK-S--S--KEMKLTDGSYFGEI | 541 |
| HCN2 | AMLTKLKFEVFQPGDYIIREGTIGKKMYFI>Q<HGVVSVLTK-G--N--KEMKLSDGSYFGEI | 610 |
| HCN3 | AVLTKLRFEVFQPGDLVVREGSVGRKMYFI>Q<HGLLSVLAR-G--A--RDTRLTDGSYFGEI | 494 |
| HCN4 | SMLTKLRFEVFQPGDYIIREGTIGKKMYFI>Q<HGVVSVLTK-G--N--KETKLADGSYFGEI | 661 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S783P | c.2347T>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||