No paralogue variants have been mapped to residue 359 for KCNH2.
KCNH2 | SKIPQITLNFVDLKGDPFLASP-T-SDREI>I<-AP-KIK-E--R-THNV-TEKVTQVL---S | 379 |
KCNH1 | -------------RLTRALTSS-R-GVLQQ>L<-APS-VQKG--E-NVHK-HSRLAEVL---Q | 189 |
KCNH3 | ------------KGFNANRRRS-R-AVLYH>L<-SGH-LQK---Q-PKG--KHKLNKGV---F | 196 |
KCNH4 | -----------TWKFRSARRRS-R-TVLHR>L<-TGH-FGR---R-GQG--GMKANNNV---F | 198 |
KCNH5 | -------------RLTRALTNS-R-SVLQQ>L<-TPM-NKT---E-VVHK-HSRLAEVL---Q | 186 |
KCNH6 | SQIPQFTLNFVEFNLEKHRSSS-T-TEIEI>I<-APHKVV-E--R-TQNV-TEKVTQVL---S | 228 |
KCNH7 | NKIPQLTLNFSEVKTEKKNSSPPS-SDKTI>I<-AP-KVK-D--R-THNV-TEKVTQVL---S | 379 |
KCNH8 | -----------GTHFDSARRRS-R-AVLYH>I<-SGH-LQR---R-EKN--KLKINNNV---F | 193 |
CNGA1 | ---------KKK-KKKEKKSKS-D-DKNEN>K<NDPE-KK------------K-KKKD-KEKK | 138 |
CNGA2 | ---------FLE-RFRGPELQT-V-TTQEG>D<GKG--D------------------------ | 116 |
CNGA3 | ---------FPD-RFRGAELKE-V-SSQES>N<AQ-A-NVGS--QEPADRGRS-AWPLAKCNT | 141 |
CNGA4 | ------------------KVKT-T-ES--->-<------------------------------ | 12 |
CNGB1 | V-KEKLIDPDVTSDEE-SPKPSPA-KKAPE>P<-APD-TKPAEAE-PVEE-EHYCDMLC---- | 631 |
CNGB3 | Y-KKKLVEGDLSS-----PEASPQ-TAKPT>A<-VPP-VKES--D-DKPT-EHYYRLLW---- | 189 |
HCN1 | -------------EDAEGPR-R-QYGFMQR>Q<--FT-SM----L-QPGV-NKF-SLRM---F | 114 |
HCN2 | -------------PAGEPRG-S-QASFMQR>Q<--FG-AL----L-QPGV-NKF-SLRM---F | 183 |
HCN3 | -------------PE------P-----KRR>H<--LG-TL----L-QPTV-NKF-SLRV---F | 65 |
HCN4 | -------------PEAEVRL-G-QAGFMQR>Q<--FG-AM----L-QPGV-NKF-SLRM---F | 234 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I359V | c.1075A>G | Putative Benign | SIFT: Polyphen: |