No paralogue variants have been mapped to residue 370 for KCNH2.
KCNH2 | FLASP-T-SDREII-AP-KIK-E--R-THN>V<-TEKVTQVL---SLGADVL-PEYKLQAPRI | 395 |
KCNH1 | ALTSS-R-GVLQQL-APS-VQKG--E-NVH>K<-HSRLAEVL---QLGSDIL-PQYKQEAPKT | 205 |
KCNH3 | NRRRS-R-AVLYHL-SGH-LQK---Q-PKG>-<-KHKLNKGV---FGEKPNL-PEYKVAAIRK | 212 |
KCNH4 | ARRRS-R-TVLHRL-TGH-FGR---R-GQG>-<-GMKANNNV---FEPKPSV-PEYKVASVGG | 214 |
KCNH5 | ALTNS-R-SVLQQL-TPM-NKT---E-VVH>K<-HSRLAEVL---QLGSDIL-PQYKQEAPKT | 202 |
KCNH6 | HRSSS-T-TEIEII-APHKVV-E--R-TQN>V<-TEKVTQVL---SLGADVL-PEYKLQAPRI | 244 |
KCNH7 | KNSSPPS-SDKTII-AP-KVK-D--R-THN>V<-TEKVTQVL---SLGADVL-PEYKLQTPRI | 395 |
KCNH8 | ARRRS-R-AVLYHI-SGH-LQR---R-EKN>-<-KLKINNNV---FVDKPAF-PEYKVSDAKK | 209 |
CNGA1 | KKSKS-D-DKNENKNDPE-KK--------->-<--K-KKKD-KEKKKK--EEKSKDKKEEEKK | 153 |
CNGA2 | PELQT-V-TTQEGDGKG--D---------->-<------------------KDGEDKGTKKKF | 128 |
CNGA3 | AELKE-V-SSQESNAQ-A-NVGS--QEPAD>R<GRS-AWPLAKCNTNTSNN-TEEE-KKTKKK | 156 |
CNGA4 | -KVKT-T-ES-------------------->-<--------------------SPPAPSKARK | 22 |
CNGB1 | SPKPSPA-KKAPEP-APD-TKPAEAE-PVE>E<-EHYCDMLC----CKFKHR-PW----KKYQ | 643 |
CNGB3 | -PEASPQ-TAKPTA-VPP-VKES--D-DKP>T<-EHYYRLLW----FKVKKM-PLTEYLKRIK | 205 |
HCN1 | GPR-R-QYGFMQRQ--FT-SM----L-QPG>V<-NKF-SLRM---FGSQKAV-EKEQERVKTA | 130 |
HCN2 | PRG-S-QASFMQRQ--FG-AL----L-QPG>V<-NKF-SLRM---FGSQKAV-EREQERVKSA | 199 |
HCN3 | ----P-----KRRH--LG-TL----L-QPT>V<-NKF-SLRV---FGSHKAV-EIEQERVKSA | 81 |
HCN4 | VRL-G-QAGFMQRQ--FG-AM----L-QPG>V<-NKF-SLRM---FGSQKAV-EREQERVKSA | 250 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V370I | c.1108G>A | Putative Benign | SIFT: Polyphen: |