No paralogue variants have been mapped to residue 791 for KCNH2.
| KCNH2 | THAPPGDTLVHAGDLLTALYFISRGSIEIL>R<G-D--V--VVAILGKNDIFGEPLNLYAR-- | 814 |
| KCNH1 | VHCAPGDLIYHAGESVDSLCFVVSGSLEVI>Q<D-D--E--VVAILGKGDVFGDVFWKEAT-- | 653 |
| KCNH3 | AFCTPGEYLIHQGDALQALYFVCSGSMEVL>K<G-G--T--VLAILGKGDLIGCELPRREQ-- | 654 |
| KCNH4 | SFCAPGEYLLRRGDALQAHYYVCSGSLEVL>R<D-N--M--VLAILGKGDLIGADIPEPGQEP | 630 |
| KCNH5 | IHCAPGDLIYHAGESVDALCFVVSGSLEVI>Q<D-D--E--VVAILGKGDVFGDIFWKETT-- | 622 |
| KCNH6 | THAPPGDTLVHLGDVLSTLYFISRGSIEIL>R<D-D--V--VVAILGKNDIFGEPVSLHAQ-- | 666 |
| KCNH7 | THAPPGDTLVHCGDVLTALYFLSRGSIEIL>K<D-D--I--VVAILGKNDIFGEMVHLYAK-- | 817 |
| KCNH8 | SFCAPGEYLLRQGDALQAIYFVCSGSMEVL>K<D-S--M--VLAILGKGDLIGANLSIKDQ-- | 623 |
| CNGA1 | QVYSPGDYICKKGDIGREMYIIKEGKLAVV>A<D-D--GVTQFVVLSDGSYFGEISILNIKGS | 555 |
| CNGA2 | QVFSPGDYICRKGDIGKEMYIIKEGKLAVV>A<D-D--GVTQYALLSAGSCFGEISILNIKGS | 530 |
| CNGA3 | TVFSPGDYICKKGDIGKEMYIINEGKLAVV>A<D-D--GVTQFVVLSDGSYFGEISILNIKGS | 558 |
| CNGA4 | QTYSPGEYVCRKGDIGQEMYIIREGQLAVV>A<D-D--GITQYAVLGAGLYFGEISIINIKGN | 424 |
| CNGB1 | VVYLPNDYVCKKGEIGREMYIIQAGQVQVL>G<GPDGKS--VLVTLKAGSVFGEISLLAVGG- | 1038 |
| CNGB3 | VLYLPGDFVCKKGEIGKEMYIIKHGEVQVL>G<GPDGTK--VLVTLKAGSVFGEISLLAAGG- | 600 |
| HCN1 | EVFQPGDYIIREGAVGKKMYFIQHGVAGVI>T<K-S--S--KEMKLTDGSYFGEICLLTKG-- | 547 |
| HCN2 | EVFQPGDYIIREGTIGKKMYFIQHGVVSVL>T<K-G--N--KEMKLSDGSYFGEICLLTRG-- | 616 |
| HCN3 | EVFQPGDLVVREGSVGRKMYFIQHGLLSVL>A<R-G--A--RDTRLTDGSYFGEICLLTRG-- | 500 |
| HCN4 | EVFQPGDYIIREGTIGKKMYFIQHGVVSVL>T<K-G--N--KETKLADGSYFGEICLLTRG-- | 667 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R791W | c.2371C>T | Inherited Arrhythmia | LQTS | rs138498207 | 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 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| Inherited Arrhythmia | LQTS | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||
| p.R791Q | c.2372G>A | Putative Benign | SIFT: Polyphen: | ||