No paralogue variants have been mapped to residue 781 for KCNH2.
KCNH2 | LRALAMKFKTTHAPPGDTLVHAGDLLTALY>F<ISRGSIEILRG-D--V--VVAILGKNDIFG | 806 |
KCNH1 | LRALAMEFQTVHCAPGDLIYHAGESVDSLC>F<VVSGSLEVIQD-D--E--VVAILGKGDVFG | 645 |
KCNH3 | LRALSLALRPAFCTPGEYLIHQGDALQALY>F<VCSGSMEVLKG-G--T--VLAILGKGDLIG | 646 |
KCNH4 | LRALSLHIKTSFCAPGEYLLRRGDALQAHY>Y<VCSGSLEVLRD-N--M--VLAILGKGDLIG | 620 |
KCNH5 | LRALAVEFQTIHCAPGDLIYHAGESVDALC>F<VVSGSLEVIQD-D--E--VVAILGKGDVFG | 614 |
KCNH6 | LRALAVKFKTTHAPPGDTLVHLGDVLSTLY>F<ISRGSIEILRD-D--V--VVAILGKNDIFG | 658 |
KCNH7 | LRALAMKFKTTHAPPGDTLVHCGDVLTALY>F<LSRGSIEILKD-D--I--VVAILGKNDIFG | 809 |
KCNH8 | LRSLSLHIKTSFCAPGEYLLRQGDALQAIY>F<VCSGSMEVLKD-S--M--VLAILGKGDLIG | 615 |
CNGA1 | LVELVLKLQPQVYSPGDYICKKGDIGREMY>I<IKEGKLAVVAD-D--GVTQFVVLSDGSYFG | 545 |
CNGA2 | LVELVLKLRPQVFSPGDYICRKGDIGKEMY>I<IKEGKLAVVAD-D--GVTQYALLSAGSCFG | 520 |
CNGA3 | LVELVLKLRPTVFSPGDYICKKGDIGKEMY>I<INEGKLAVVAD-D--GVTQFVVLSDGSYFG | 548 |
CNGA4 | LEELVLKLQPQTYSPGEYVCRKGDIGQEMY>I<IREGQLAVVAD-D--GITQYAVLGAGLYFG | 414 |
CNGB1 | IFDMLKRLRSVVYLPNDYVCKKGEIGREMY>I<IQAGQVQVLGGPDGKS--VLVTLKAGSVFG | 1029 |
CNGB3 | IYDMLLRLKSVLYLPGDFVCKKGEIGKEMY>I<IKHGEVQVLGGPDGTK--VLVTLKAGSVFG | 591 |
HCN1 | VTAMLSKLRFEVFQPGDYIIREGAVGKKMY>F<IQHGVAGVITK-S--S--KEMKLTDGSYFG | 539 |
HCN2 | VTAMLTKLKFEVFQPGDYIIREGTIGKKMY>F<IQHGVVSVLTK-G--N--KEMKLSDGSYFG | 608 |
HCN3 | VTAVLTKLRFEVFQPGDLVVREGSVGRKMY>F<IQHGLLSVLAR-G--A--RDTRLTDGSYFG | 492 |
HCN4 | VTSMLTKLRFEVFQPGDYIIREGTIGKKMY>F<IQHGVVSVLTK-G--N--KETKLADGSYFG | 659 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Phe781Leu | c.2343C>G | Unknown | SIFT: Polyphen: |