No paralogue variants have been mapped to residue 867 for KCNH2.
KCNH2 | EVLDMYPEFSDHFWSSL--EIT-FNLRDTN>M<-IP-GSP---GSTELE--------GGFSRQ | 884 |
KCNH1 | KVLEFYTAFSHSFSRNL--ILT-YNLRKRI>V<-FRKISD---VKREEE--------ERMKRK | 724 |
KCNH3 | DSLALYPEFAPRFSRGLRGELS-YNLGAGG>G<-SAEVDT-----SSLS------------G- | 720 |
KCNH4 | EVLRLYPEYGAAFRAGLPRDLT-FNLRQGS>D<-TSGLSR-----FSRS--------PRLSQP | 709 |
KCNH5 | KVLDFYTAFANSFSRNL--TLT-CNLRKRI>I<-FRKISD---VKKEEE--------ERLRQK | 693 |
KCNH6 | EVLDMYPAFAESFWSKL--EVT-FNLRDAA>G<-GL-------HSSPRQ--------APGSQD | 733 |
KCNH7 | EVLDMYPEFSDHFLTNL--ELT-FNLRHES>A<-KA-DLLRSQSMNDSE--------GDNCKL | 890 |
KCNH8 | EVLDLYPEYAHKFVEDIQHDLT-YNLREGH>E<-SDVISR-----LSNK--------SMVSQS | 694 |
CNGA1 | EALTEYPDAKTMLEEKGKQILMKDGLLDLN>I<-ANAGSD---PKDLEE--------K---VT | 628 |
CNGA2 | EAVTEYPDAKKVLEERGREILMKEGLLDEN>E<-VATS-M---EVDVQE--------K---LG | 602 |
CNGA3 | EALTEYPEAKKALEEKGRQILMKDNLIDEE>L<-ARAGAD---PKDLEE--------K---VE | 631 |
CNGA4 | EVLSEYPQAQTIMEEKGREILLKMNKLDVN>A<-EAAEIA---LQEATE--------SR--LR | 498 |
CNGB1 | EILVHYPESQKLLRKKARRMLRSNNKPK-->-<---EE-K-----SVLILPPRAGTPKL--FN | 1110 |
CNGB3 | EILVHYPDSERILMKKARVLLKQKAKTA-E>A<TPPRK-D-----LALLFPPKEETPKL--FK | 677 |
HCN1 | EVLEEYPMMRRAFETVAIDRLDRIGKKNSI>L<-LQKFQ------KDLNT-------GVFNN- | 616 |
HCN2 | EVLEEYPMMRRAFETVAIDRLDRIGKKNSI>L<-LHKVQ------HDLNS-------GVFNN- | 685 |
HCN3 | AVLEEFPMMRRAFETVAMDRLLRIGKKNSI>L<-QRKRS------EPSPG-----------S- | 565 |
HCN4 | EVLEEYPMMRRAFETVALDRLDRIGKKNSI>L<-LHKVQ------HDLNS-------GVFNY- | 736 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M867T | c.2600T>C | Putative Benign | SIFT: Polyphen: |