No paralogue variants have been mapped to residue 40 for KCNH2.
KCNH2 | EGQSRK-----------FIIANA-RVEN-C>A<VI-YCNDGFCELCGYSRAEVMQRPCTCDFL | 69 |
KCNH1 | --NDTN-----------FVLGNA-QIVD-W>P<IV-YSNDGFCKLSGYHRAEVMQKSSTCSFM | 70 |
KCNH3 | DGTHSN-----------FVLGNA-QVAGLF>P<VV-YCSDGFCDLTGFSRAEVMQRGCACSFL | 70 |
KCNH4 | DGTHSN-----------FLLANA-QGTRGF>P<IV-YCSDGFCELTGYGRTEVMQKTCSCRFL | 70 |
KCNH5 | --SESS-----------FLLGNA-QIVD-W>P<VV-YSNDGFCKLSGYHRADVMQKSSTCSFM | 68 |
KCNH6 | EGQSRK-----------FLIANA-QMEN-C>A<II-YCNDGFCELFGYSRVEVMQQPCTCDFL | 69 |
KCNH7 | EGQNKK-----------FIIANA-RVQN-C>A<II-YCNDGFCEMTGFSRPDVMQKPCTCDFL | 69 |
KCNH8 | DGTHSN-----------FILANA-QVAKGF>P<IV-YCSDGFCELAGFARTEVMQKSCSCKFL | 70 |
CNGA1 | EKE------------I-------------->-<-R-RMEN----------------------- | 36 |
CNGA2 | ------------------------------>-<----NHNHHA------PPA----------- | 23 |
CNGA3 | TH-------------L-------------->-<-KVKTSD----------------------- | 22 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | QGAEISEMNSPSRRVLTWLMKGVEKVIP-Q>P<VH-SITE----------------DPAQILG | 130 |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | KPNS-------------------------->-<------------------------------ | 9 |
HCN2 | RPGE-------------------------->-<------------------------------ | 12 |
HCN3 | RPAA-------------------------->-<------------------------------ | 9 |
HCN4 | MDEE-------------------------->-<-----EDAEEEG-AGGRQDPSRRSIRLRPL | 53 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ala40Val | c.119C>T | Unknown | SIFT: Polyphen: |