No paralogue variants have been mapped to residue 357 for KCNH2.
KCNH2 | TISKIPQITLNFVDLKGDPFLASP-T-SDR>E<II-AP-KIK-E--R-THNV-TEKVTQVL-- | 378 |
KCNH1 | ---------------RLTRALTSS-R-GVL>Q<QL-APS-VQKG--E-NVHK-HSRLAEVL-- | 188 |
KCNH3 | --------------KGFNANRRRS-R-AVL>Y<HL-SGH-LQK---Q-PKG--KHKLNKGV-- | 195 |
KCNH4 | -------------TWKFRSARRRS-R-TVL>H<RL-TGH-FGR---R-GQG--GMKANNNV-- | 197 |
KCNH5 | ---------------RLTRALTNS-R-SVL>Q<QL-TPM-NKT---E-VVHK-HSRLAEVL-- | 185 |
KCNH6 | TISQIPQFTLNFVEFNLEKHRSSS-T-TEI>E<II-APHKVV-E--R-TQNV-TEKVTQVL-- | 227 |
KCNH7 | TINKIPQLTLNFSEVKTEKKNSSPPS-SDK>T<II-AP-KVK-D--R-THNV-TEKVTQVL-- | 378 |
KCNH8 | -------------GTHFDSARRRS-R-AVL>Y<HI-SGH-LQR---R-EKN--KLKINNNV-- | 192 |
CNGA1 | -----------KKK-KKKEKKSKS-D-DKN>E<NKNDPE-KK------------K-KKKD-KE | 136 |
CNGA2 | -----------FLE-RFRGPELQT-V-TTQ>E<GDGKG--D---------------------- | 116 |
CNGA3 | -----------FPD-RFRGAELKE-V-SSQ>E<SNAQ-A-NVGS--QEPADRGRS-AWPLAKC | 139 |
CNGA4 | --------------------KVKT-T-ES->-<------------------------------ | 12 |
CNGB1 | EKV-KEKLIDPDVTSDEE-SPKPSPA-KKA>P<EP-APD-TKPAEAE-PVEE-EHYCDMLC-- | 631 |
CNGB3 | ALY-KKKLVEGDLSS-----PEASPQ-TAK>P<TA-VPP-VKES--D-DKPT-EHYYRLLW-- | 189 |
HCN1 | ---------------EDAEGPR-R-QYGFM>Q<RQ--FT-SM----L-QPGV-NKF-SLRM-- | 113 |
HCN2 | ---------------PAGEPRG-S-QASFM>Q<RQ--FG-AL----L-QPGV-NKF-SLRM-- | 182 |
HCN3 | ---------------PE------P-----K>R<RH--LG-TL----L-QPTV-NKF-SLRV-- | 64 |
HCN4 | ---------------PEAEVRL-G-QAGFM>Q<RQ--FG-AM----L-QPGV-NKF-SLRM-- | 233 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E357D | c.1071G>T | Putative Benign | SIFT: Polyphen: |