No paralogue variants have been mapped to residue 796 for KCNH2.
KCNH2 | HAGDLLTALYFISRGSIEILRG-D--V--V>V<AILGKNDIFGEPLNLYAR------P----G | 816 |
KCNH1 | HAGESVDSLCFVVSGSLEVIQD-D--E--V>V<AILGKGDVFGDVFWKEAT------L----A | 655 |
KCNH3 | HQGDALQALYFVCSGSMEVLKG-G--T--V>L<AILGKGDLIGCELPRREQ------V----V | 656 |
KCNH4 | RRGDALQAHYYVCSGSLEVLRD-N--M--V>L<AILGKGDLIGADIPEPGQEPGLGADPNFVL | 640 |
KCNH5 | HAGESVDALCFVVSGSLEVIQD-D--E--V>V<AILGKGDVFGDIFWKETT------L----A | 624 |
KCNH6 | HLGDVLSTLYFISRGSIEILRD-D--V--V>V<AILGKNDIFGEPVSLHAQ------P----G | 668 |
KCNH7 | HCGDVLTALYFLSRGSIEILKD-D--I--V>V<AILGKNDIFGEMVHLYAK------P----G | 819 |
KCNH8 | RQGDALQAIYFVCSGSMEVLKD-S--M--V>L<AILGKGDLIGANLSIKDQ------V----I | 625 |
CNGA1 | KKGDIGREMYIIKEGKLAVVAD-D--GVTQ>F<VVLSDGSYFGEISILNIKGSKA--G----N | 559 |
CNGA2 | RKGDIGKEMYIIKEGKLAVVAD-D--GVTQ>Y<ALLSAGSCFGEISILNIKGSKM--G----N | 534 |
CNGA3 | KKGDIGKEMYIINEGKLAVVAD-D--GVTQ>F<VVLSDGSYFGEISILNIKGSKS--G----N | 562 |
CNGA4 | RKGDIGQEMYIIREGQLAVVAD-D--GITQ>Y<AVLGAGLYFGEISIINIKGNMS--G----N | 428 |
CNGB1 | KKGEIGREMYIIQAGQVQVLGGPDGKS--V>L<VTLKAGSVFGEISLLAVGG-----G----N | 1040 |
CNGB3 | KKGEIGKEMYIIKHGEVQVLGGPDGTK--V>L<VTLKAGSVFGEISLLAAGG-----G----N | 602 |
HCN1 | REGAVGKKMYFIQHGVAGVITK-S--S--K>E<MKLTDGSYFGEICLLTKG------------ | 547 |
HCN2 | REGTIGKKMYFIQHGVVSVLTK-G--N--K>E<MKLSDGSYFGEICLLTRG------------ | 616 |
HCN3 | REGSVGRKMYFIQHGLLSVLAR-G--A--R>D<TRLTDGSYFGEICLLTRG------------ | 500 |
HCN4 | REGTIGKKMYFIQHGVVSVLTK-G--N--K>E<TKLADGSYFGEICLLTRG------------ | 667 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V796L | c.2386G>C | Putative Benign | rs143335921 | SIFT: tolerated Polyphen: possibly damaging | |
p.V796L | c.2386G>T | Putative Benign | SIFT: Polyphen: |