No paralogue variants have been mapped to residue 351 for KCNH2.
KCNH2 | LVRYR---TISKIPQITLNFVDLKGDPFLA>S<P-T-SDREII-AP-KIK-E--R-THNV-TE | 372 |
KCNH1 | --KFA------------------RLTRALT>S<S-R-GVLQQL-APS-VQKG--E-NVHK-HS | 182 |
KCNH3 | ---S------------------KGFNANRR>R<S-R-AVLYHL-SGH-LQK---Q-PKG--KH | 189 |
KCNH4 | ---A-----------------TWKFRSARR>R<S-R-TVLHRL-TGH-FGR---R-GQG--GM | 191 |
KCNH5 | --KFA------------------RLTRALT>N<S-R-SVLQQL-TPM-NKT---E-VVHK-HS | 179 |
KCNH6 | RGKYR---TISQIPQFTLNFVEFNLEKHRS>S<S-T-TEIEII-APHKVV-E--R-TQNV-TE | 221 |
KCNH7 | LNKYS---TINKIPQLTLNFSEVKTEKKNS>S<PPS-SDKTII-AP-KVK-D--R-THNV-TE | 372 |
KCNH8 | ---A-----------------GTHFDSARR>R<S-R-AVLYHI-SGH-LQR---R-EKN--KL | 186 |
CNGA1 | -------------------KKK-KKKEKKS>K<S-D-DKNENKNDPE-KK------------K | 130 |
CNGA2 | -------------------FLE-RFRGPEL>Q<T-V-TTQEGDGKG--D-------------- | 116 |
CNGA3 | -------------------FPD-RFRGAEL>K<E-V-SSQESNAQ-A-NVGS--QEPADRGRS | 132 |
CNGA4 | ----------------------------KV>K<T-T-ES------------------------ | 12 |
CNGB1 | VKLFKERTEKV-KEKLIDPDVTSDEE-SPK>P<SPA-KKAPEP-APD-TKPAEAE-PVEE-EH | 625 |
CNGB3 | VKRMRQRTALY-KKKLVEGDLSS-----PE>A<SPQ-TAKPTA-VPP-VKES--D-DKPT-EH | 183 |
HCN1 | -----------------------EDAEGPR>-<R-QYGFMQRQ--FT-SM----L-QPGV-NK | 108 |
HCN2 | -----------------------PAGEPRG>-<S-QASFMQRQ--FG-AL----L-QPGV-NK | 177 |
HCN3 | -----------------------PE----->-<P-----KRRH--LG-TL----L-QPTV-NK | 59 |
HCN4 | -----------------------PEAEVRL>-<G-QAGFMQRQ--FG-AM----L-QPGV-NK | 228 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S351L | c.1052C>T | Putative Benign | SIFT: Polyphen: |