No paralogue variants have been mapped to residue 795 for KCNH2.
KCNH2 | VHAGDLLTALYFISRGSIEILRG-D--V-->V<VAILGKNDIFGEPLNLYAR------P---- | 815 |
KCNH1 | YHAGESVDSLCFVVSGSLEVIQD-D--E-->V<VAILGKGDVFGDVFWKEAT------L---- | 654 |
KCNH3 | IHQGDALQALYFVCSGSMEVLKG-G--T-->V<LAILGKGDLIGCELPRREQ------V---- | 655 |
KCNH4 | LRRGDALQAHYYVCSGSLEVLRD-N--M-->V<LAILGKGDLIGADIPEPGQEPGLGADPNFV | 639 |
KCNH5 | YHAGESVDALCFVVSGSLEVIQD-D--E-->V<VAILGKGDVFGDIFWKETT------L---- | 623 |
KCNH6 | VHLGDVLSTLYFISRGSIEILRD-D--V-->V<VAILGKNDIFGEPVSLHAQ------P---- | 667 |
KCNH7 | VHCGDVLTALYFLSRGSIEILKD-D--I-->V<VAILGKNDIFGEMVHLYAK------P---- | 818 |
KCNH8 | LRQGDALQAIYFVCSGSMEVLKD-S--M-->V<LAILGKGDLIGANLSIKDQ------V---- | 624 |
CNGA1 | CKKGDIGREMYIIKEGKLAVVAD-D--GVT>Q<FVVLSDGSYFGEISILNIKGSKA--G---- | 558 |
CNGA2 | CRKGDIGKEMYIIKEGKLAVVAD-D--GVT>Q<YALLSAGSCFGEISILNIKGSKM--G---- | 533 |
CNGA3 | CKKGDIGKEMYIINEGKLAVVAD-D--GVT>Q<FVVLSDGSYFGEISILNIKGSKS--G---- | 561 |
CNGA4 | CRKGDIGQEMYIIREGQLAVVAD-D--GIT>Q<YAVLGAGLYFGEISIINIKGNMS--G---- | 427 |
CNGB1 | CKKGEIGREMYIIQAGQVQVLGGPDGKS-->V<LVTLKAGSVFGEISLLAVGG-----G---- | 1039 |
CNGB3 | CKKGEIGKEMYIIKHGEVQVLGGPDGTK-->V<LVTLKAGSVFGEISLLAAGG-----G---- | 601 |
HCN1 | IREGAVGKKMYFIQHGVAGVITK-S--S-->K<EMKLTDGSYFGEICLLTKG----------- | 547 |
HCN2 | IREGTIGKKMYFIQHGVVSVLTK-G--N-->K<EMKLSDGSYFGEICLLTRG----------- | 616 |
HCN3 | VREGSVGRKMYFIQHGLLSVLAR-G--A-->R<DTRLTDGSYFGEICLLTRG----------- | 500 |
HCN4 | IREGTIGKKMYFIQHGVVSVLTK-G--N-->K<ETKLADGSYFGEICLLTRG----------- | 667 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V795I | c.2383G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 |