No paralogue variants have been mapped to residue 800 for KCNH2.
| KCNH2 | LLTALYFISRGSIEILRG-D--V--VVAIL>G<KNDIFGEPLNLYAR------P----GKSNG | 820 |
| KCNH1 | SVDSLCFVVSGSLEVIQD-D--E--VVAIL>G<KGDVFGDVFWKEAT------L----AQSCA | 659 |
| KCNH3 | ALQALYFVCSGSMEVLKG-G--T--VLAIL>G<KGDLIGCELPRREQ------V----VKANA | 660 |
| KCNH4 | ALQAHYYVCSGSLEVLRD-N--M--VLAIL>G<KGDLIGADIPEPGQEPGLGADPNFVLKTSA | 644 |
| KCNH5 | SVDALCFVVSGSLEVIQD-D--E--VVAIL>G<KGDVFGDIFWKETT------L----AHACA | 628 |
| KCNH6 | VLSTLYFISRGSIEILRD-D--V--VVAIL>G<KNDIFGEPVSLHAQ------P----GKSSA | 672 |
| KCNH7 | VLTALYFLSRGSIEILKD-D--I--VVAIL>G<KNDIFGEMVHLYAK------P----GKSNA | 823 |
| KCNH8 | ALQAIYFVCSGSMEVLKD-S--M--VLAIL>G<KGDLIGANLSIKDQ------V----IKTNA | 629 |
| CNGA1 | IGREMYIIKEGKLAVVAD-D--GVTQFVVL>S<DGSYFGEISILNIKGSKA--G----NRRTA | 563 |
| CNGA2 | IGKEMYIIKEGKLAVVAD-D--GVTQYALL>S<AGSCFGEISILNIKGSKM--G----NRRTA | 538 |
| CNGA3 | IGKEMYIINEGKLAVVAD-D--GVTQFVVL>S<DGSYFGEISILNIKGSKS--G----NRRTA | 566 |
| CNGA4 | IGQEMYIIREGQLAVVAD-D--GITQYAVL>G<AGLYFGEISIINIKGNMS--G----NRRTA | 432 |
| CNGB1 | IGREMYIIQAGQVQVLGGPDGKS--VLVTL>K<AGSVFGEISLLAVGG-----G----NRRTA | 1044 |
| CNGB3 | IGKEMYIIKHGEVQVLGGPDGTK--VLVTL>K<AGSVFGEISLLAAGG-----G----NRRTA | 606 |
| HCN1 | VGKKMYFIQHGVAGVITK-S--S--KEMKL>T<DGSYFGEICLLTKG------------RRTA | 551 |
| HCN2 | IGKKMYFIQHGVVSVLTK-G--N--KEMKL>S<DGSYFGEICLLTRG------------RRTA | 620 |
| HCN3 | VGRKMYFIQHGLLSVLAR-G--A--RDTRL>T<DGSYFGEICLLTRG------------RRTA | 504 |
| HCN4 | IGKKMYFIQHGVVSVLTK-G--N--KETKL>A<DGSYFGEICLLTRG------------RRTA | 671 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G800E | c.2399G>A | Inherited Arrhythmia | LQTS | rs199473536 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | ||
| p.G800W | c.2398G>T | Inherited Arrhythmia | LQTS | rs199472998 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| 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.G800R | c.2398G>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 | ||