No paralogue variants have been mapped to residue 794 for KCNH2.
KCNH2 | DTLVHAGDLLTALYFISRGSIEILRG-D-->V<--VVAILGKNDIFGEPLNLYAR------P- | 815 |
KCNH1 | DLIYHAGESVDSLCFVVSGSLEVIQD-D-->E<--VVAILGKGDVFGDVFWKEAT------L- | 654 |
KCNH3 | EYLIHQGDALQALYFVCSGSMEVLKG-G-->T<--VLAILGKGDLIGCELPRREQ------V- | 655 |
KCNH4 | EYLLRRGDALQAHYYVCSGSLEVLRD-N-->M<--VLAILGKGDLIGADIPEPGQEPGLGADP | 636 |
KCNH5 | DLIYHAGESVDALCFVVSGSLEVIQD-D-->E<--VVAILGKGDVFGDIFWKETT------L- | 623 |
KCNH6 | DTLVHLGDVLSTLYFISRGSIEILRD-D-->V<--VVAILGKNDIFGEPVSLHAQ------P- | 667 |
KCNH7 | DTLVHCGDVLTALYFLSRGSIEILKD-D-->I<--VVAILGKNDIFGEMVHLYAK------P- | 818 |
KCNH8 | EYLLRQGDALQAIYFVCSGSMEVLKD-S-->M<--VLAILGKGDLIGANLSIKDQ------V- | 624 |
CNGA1 | DYICKKGDIGREMYIIKEGKLAVVAD-D-->G<VTQFVVLSDGSYFGEISILNIKGSKA--G- | 558 |
CNGA2 | DYICRKGDIGKEMYIIKEGKLAVVAD-D-->G<VTQYALLSAGSCFGEISILNIKGSKM--G- | 533 |
CNGA3 | DYICKKGDIGKEMYIINEGKLAVVAD-D-->G<VTQFVVLSDGSYFGEISILNIKGSKS--G- | 561 |
CNGA4 | EYVCRKGDIGQEMYIIREGQLAVVAD-D-->G<ITQYAVLGAGLYFGEISIINIKGNMS--G- | 427 |
CNGB1 | DYVCKKGEIGREMYIIQAGQVQVLGGPDGK>S<--VLVTLKAGSVFGEISLLAVGG-----G- | 1039 |
CNGB3 | DFVCKKGEIGKEMYIIKHGEVQVLGGPDGT>K<--VLVTLKAGSVFGEISLLAAGG-----G- | 601 |
HCN1 | DYIIREGAVGKKMYFIQHGVAGVITK-S-->S<--KEMKLTDGSYFGEICLLTKG-------- | 547 |
HCN2 | DYIIREGTIGKKMYFIQHGVVSVLTK-G-->N<--KEMKLSDGSYFGEICLLTRG-------- | 616 |
HCN3 | DLVVREGSVGRKMYFIQHGLLSVLAR-G-->A<--RDTRLTDGSYFGEICLLTRG-------- | 500 |
HCN4 | DYIIREGTIGKKMYFIQHGVVSVLTK-G-->N<--KETKLADGSYFGEICLLTRG-------- | 667 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V794I | c.2380G>A | Putative Benign | SIFT: tolerated Polyphen: benign |