No paralogue variants have been mapped to residue 797 for KCNH2.
KCNH2 | AGDLLTALYFISRGSIEILRG-D--V--VV>A<ILGKNDIFGEPLNLYAR------P----GK | 817 |
KCNH1 | AGESVDSLCFVVSGSLEVIQD-D--E--VV>A<ILGKGDVFGDVFWKEAT------L----AQ | 656 |
KCNH3 | QGDALQALYFVCSGSMEVLKG-G--T--VL>A<ILGKGDLIGCELPRREQ------V----VK | 657 |
KCNH4 | RGDALQAHYYVCSGSLEVLRD-N--M--VL>A<ILGKGDLIGADIPEPGQEPGLGADPNFVLK | 641 |
KCNH5 | AGESVDALCFVVSGSLEVIQD-D--E--VV>A<ILGKGDVFGDIFWKETT------L----AH | 625 |
KCNH6 | LGDVLSTLYFISRGSIEILRD-D--V--VV>A<ILGKNDIFGEPVSLHAQ------P----GK | 669 |
KCNH7 | CGDVLTALYFLSRGSIEILKD-D--I--VV>A<ILGKNDIFGEMVHLYAK------P----GK | 820 |
KCNH8 | QGDALQAIYFVCSGSMEVLKD-S--M--VL>A<ILGKGDLIGANLSIKDQ------V----IK | 626 |
CNGA1 | KGDIGREMYIIKEGKLAVVAD-D--GVTQF>V<VLSDGSYFGEISILNIKGSKA--G----NR | 560 |
CNGA2 | KGDIGKEMYIIKEGKLAVVAD-D--GVTQY>A<LLSAGSCFGEISILNIKGSKM--G----NR | 535 |
CNGA3 | KGDIGKEMYIINEGKLAVVAD-D--GVTQF>V<VLSDGSYFGEISILNIKGSKS--G----NR | 563 |
CNGA4 | KGDIGQEMYIIREGQLAVVAD-D--GITQY>A<VLGAGLYFGEISIINIKGNMS--G----NR | 429 |
CNGB1 | KGEIGREMYIIQAGQVQVLGGPDGKS--VL>V<TLKAGSVFGEISLLAVGG-----G----NR | 1041 |
CNGB3 | KGEIGKEMYIIKHGEVQVLGGPDGTK--VL>V<TLKAGSVFGEISLLAAGG-----G----NR | 603 |
HCN1 | EGAVGKKMYFIQHGVAGVITK-S--S--KE>M<KLTDGSYFGEICLLTKG------------R | 548 |
HCN2 | EGTIGKKMYFIQHGVVSVLTK-G--N--KE>M<KLSDGSYFGEICLLTRG------------R | 617 |
HCN3 | EGSVGRKMYFIQHGLLSVLAR-G--A--RD>T<RLTDGSYFGEICLLTRG------------R | 501 |
HCN4 | EGTIGKKMYFIQHGVVSVLTK-G--N--KE>T<KLADGSYFGEICLLTRG------------R | 668 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ala797Asp | c.2390C>A | Unknown | SIFT: Polyphen: |