| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | G525D | Colour-blindness, total | High | 9 | 11536077 |
| CNGA3 | G525S | Leber congenital amaurosis | High | 9 | 26355662 |
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.
| KCNH2 | AMKFKTTHAPPGDTLVHAGDLLTALYFISR>G<SIEILRG-D--V--VVAILGKNDIFGEPLN | 810 |
| KCNH1 | AMEFQTVHCAPGDLIYHAGESVDSLCFVVS>G<SLEVIQD-D--E--VVAILGKGDVFGDVFW | 649 |
| KCNH3 | SLALRPAFCTPGEYLIHQGDALQALYFVCS>G<SMEVLKG-G--T--VLAILGKGDLIGCELP | 650 |
| KCNH4 | SLHIKTSFCAPGEYLLRRGDALQAHYYVCS>G<SLEVLRD-N--M--VLAILGKGDLIGADIP | 624 |
| KCNH5 | AVEFQTIHCAPGDLIYHAGESVDALCFVVS>G<SLEVIQD-D--E--VVAILGKGDVFGDIFW | 618 |
| KCNH6 | AVKFKTTHAPPGDTLVHLGDVLSTLYFISR>G<SIEILRD-D--V--VVAILGKNDIFGEPVS | 662 |
| KCNH7 | AMKFKTTHAPPGDTLVHCGDVLTALYFLSR>G<SIEILKD-D--I--VVAILGKNDIFGEMVH | 813 |
| KCNH8 | SLHIKTSFCAPGEYLLRQGDALQAIYFVCS>G<SMEVLKD-S--M--VLAILGKGDLIGANLS | 619 |
| CNGA1 | VLKLQPQVYSPGDYICKKGDIGREMYIIKE>G<KLAVVAD-D--GVTQFVVLSDGSYFGEISI | 549 |
| CNGA2 | VLKLRPQVFSPGDYICRKGDIGKEMYIIKE>G<KLAVVAD-D--GVTQYALLSAGSCFGEISI | 524 |
| CNGA3 | VLKLRPTVFSPGDYICKKGDIGKEMYIINE>G<KLAVVAD-D--GVTQFVVLSDGSYFGEISI | 552 |
| CNGA4 | VLKLQPQTYSPGEYVCRKGDIGQEMYIIRE>G<QLAVVAD-D--GITQYAVLGAGLYFGEISI | 418 |
| CNGB1 | LKRLRSVVYLPNDYVCKKGEIGREMYIIQA>G<QVQVLGGPDGKS--VLVTLKAGSVFGEISL | 1033 |
| CNGB3 | LLRLKSVLYLPGDFVCKKGEIGKEMYIIKH>G<EVQVLGGPDGTK--VLVTLKAGSVFGEISL | 595 |
| HCN1 | LSKLRFEVFQPGDYIIREGAVGKKMYFIQH>G<VAGVITK-S--S--KEMKLTDGSYFGEICL | 543 |
| HCN2 | LTKLKFEVFQPGDYIIREGTIGKKMYFIQH>G<VVSVLTK-G--N--KEMKLSDGSYFGEICL | 612 |
| HCN3 | LTKLRFEVFQPGDLVVREGSVGRKMYFIQH>G<LLSVLAR-G--A--RDTRLTDGSYFGEICL | 496 |
| HCN4 | LTKLRFEVFQPGDYIIREGTIGKKMYFIQH>G<VVSVLTK-G--N--KETKLADGSYFGEICL | 663 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G785A | c.2354G>C | Inherited Arrhythmia | LQTS | rs199472996 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Contribution of inherited heart disease to sudden cardiac death in childhood. Pediatrics. 2007 120(4):e967-73. 17908752 | ||
| p.G785V | c.2354G>T | Inherited Arrhythmia | LQTS | rs199472996 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013 | ||
| 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 | |||
| p.G785S | c.2353G>A | 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 | ||