No paralogue variants have been mapped to residue 869 for KCNH2.
KCNH2 | DMYPEFSDHFWSSL--EIT-FNLRDTNM-I>P<-GSP---GSTELE--------GGFSRQRKR | 887 |
KCNH1 | EFYTAFSHSFSRNL--ILT-YNLRKRIV-F>R<KISD---VKREEE--------ERMKRKNEA | 727 |
KCNH3 | ALYPEFAPRFSRGLRGELS-YNLGAGGG-S>A<EVDT-----SSLS------------G---- | 720 |
KCNH4 | RLYPEYGAAFRAGLPRDLT-FNLRQGSD-T>S<GLSR-----FSRS--------PRLSQPRSE | 712 |
KCNH5 | DFYTAFANSFSRNL--TLT-CNLRKRII-F>R<KISD---VKKEEE--------ERLRQKNEV | 696 |
KCNH6 | DMYPAFAESFWSKL--EVT-FNLRDAAG-G>L<-------HSSPRQ--------APGSQDHQG | 736 |
KCNH7 | DMYPEFSDHFLTNL--ELT-FNLRHESA-K>A<-DLLRSQSMNDSE--------GDNCKLRRR | 893 |
KCNH8 | DLYPEYAHKFVEDIQHDLT-YNLREGHE-S>D<VISR-----LSNK--------SMVSQSEPK | 697 |
CNGA1 | TEYPDAKTMLEEKGKQILMKDGLLDLNI-A>N<AGSD---PKDLEE--------K---VTRME | 631 |
CNGA2 | TEYPDAKKVLEERGREILMKEGLLDENE-V>A<TS-M---EVDVQE--------K---LGQLE | 605 |
CNGA3 | TEYPEAKKALEEKGRQILMKDNLIDEEL-A>R<AGAD---PKDLEE--------K---VEQLG | 634 |
CNGA4 | SEYPQAQTIMEEKGREILLKMNKLDVNA-E>A<AEIA---LQEATE--------SR--LRGLD | 501 |
CNGB1 | VHYPESQKLLRKKARRMLRSNNKPK----->-<EE-K-----SVLILPPRAGTPKL--FNAA- | 1112 |
CNGB3 | VHYPDSERILMKKARVLLKQKAKTA-EATP>P<RK-D-----LALLFPPKEETPKL--FKTL- | 679 |
HCN1 | EEYPMMRRAFETVAIDRLDRIGKKNSIL-L>Q<KFQ------KDLNT-------GVFNN-Q-- | 617 |
HCN2 | EEYPMMRRAFETVAIDRLDRIGKKNSIL-L>H<KVQ------HDLNS-------GVFNN-Q-- | 686 |
HCN3 | EEFPMMRRAFETVAMDRLLRIGKKNSIL-Q>R<KRS------EPSPG-----------S-S-- | 566 |
HCN4 | EEYPMMRRAFETVALDRLDRIGKKNSIL-L>H<KVQ------HDLNS-------GVFNY-Q-- | 737 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P869L | c.2606C>T | Putative Benign | SIFT: Polyphen: |