No paralogue variants have been mapped to residue 353 for KCNH2.
KCNH2 | YR---TISKIPQITLNFVDLKGDPFLASP->T<-SDREII-AP-KIK-E--R-THNV-TEKVT | 375 |
KCNH1 | FA------------------RLTRALTSS->R<-GVLQQL-APS-VQKG--E-NVHK-HSRLA | 185 |
KCNH3 | S------------------KGFNANRRRS->R<-AVLYHL-SGH-LQK---Q-PKG--KHKLN | 192 |
KCNH4 | A-----------------TWKFRSARRRS->R<-TVLHRL-TGH-FGR---R-GQG--GMKAN | 194 |
KCNH5 | FA------------------RLTRALTNS->R<-SVLQQL-TPM-NKT---E-VVHK-HSRLA | 182 |
KCNH6 | YR---TISQIPQFTLNFVEFNLEKHRSSS->T<-TEIEII-APHKVV-E--R-TQNV-TEKVT | 224 |
KCNH7 | YS---TINKIPQLTLNFSEVKTEKKNSSPP>S<-SDKTII-AP-KVK-D--R-THNV-TEKVT | 375 |
KCNH8 | A-----------------GTHFDSARRRS->R<-AVLYHI-SGH-LQR---R-EKN--KLKIN | 189 |
CNGA1 | ----------------KKK-KKKEKKSKS->D<-DKNENKNDPE-KK------------K-KK | 132 |
CNGA2 | ----------------FLE-RFRGPELQT->V<-TTQEGDGKG--D----------------- | 116 |
CNGA3 | ----------------FPD-RFRGAELKE->V<-SSQESNAQ-A-NVGS--QEPADRGRS-AW | 134 |
CNGA4 | -------------------------KVKT->T<-ES--------------------------- | 12 |
CNGB1 | FKERTEKV-KEKLIDPDVTSDEE-SPKPSP>A<-KKAPEP-APD-TKPAEAE-PVEE-EHYCD | 628 |
CNGB3 | MRQRTALY-KKKLVEGDLSS-----PEASP>Q<-TAKPTA-VPP-VKES--D-DKPT-EHYYR | 186 |
HCN1 | --------------------EDAEGPR-R->Q<YGFMQRQ--FT-SM----L-QPGV-NKF-S | 110 |
HCN2 | --------------------PAGEPRG-S->Q<ASFMQRQ--FG-AL----L-QPGV-NKF-S | 179 |
HCN3 | --------------------PE------P->-<---KRRH--LG-TL----L-QPTV-NKF-S | 61 |
HCN4 | --------------------PEAEVRL-G->Q<AGFMQRQ--FG-AM----L-QPGV-NKF-S | 230 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T353S | c.1057A>T | Putative Benign | SIFT: Polyphen: |