No paralogue variants have been mapped to residue 348 for KCNH2.
| KCNH2 | DSDLVRYR---TISKIPQITLNFVDLKGDP>F<LASP-T-SDREII-AP-KIK-E--R-THNV | 370 |
| KCNH1 | -----KFA------------------RLTR>A<LTSS-R-GVLQQL-APS-VQKG--E-NVHK | 180 |
| KCNH3 | ------S------------------KGFNA>N<RRRS-R-AVLYHL-SGH-LQK---Q-PKG- | 187 |
| KCNH4 | ------A-----------------TWKFRS>A<RRRS-R-TVLHRL-TGH-FGR---R-GQG- | 189 |
| KCNH5 | -----KFA------------------RLTR>A<LTNS-R-SVLQQL-TPM-NKT---E-VVHK | 177 |
| KCNH6 | -TGRGKYR---TISQIPQFTLNFVEFNLEK>H<RSSS-T-TEIEII-APHKVV-E--R-TQNV | 219 |
| KCNH7 | DSNLNKYS---TINKIPQLTLNFSEVKTEK>K<NSSPPS-SDKTII-AP-KVK-D--R-THNV | 370 |
| KCNH8 | ------A-----------------GTHFDS>A<RRRS-R-AVLYHI-SGH-LQR---R-EKN- | 184 |
| CNGA1 | ----------------------KKK-KKKE>K<KSKS-D-DKNENKNDPE-KK---------- | 129 |
| CNGA2 | ----------------------FLE-RFRG>P<ELQT-V-TTQEGDGKG--D----------- | 116 |
| CNGA3 | ----------------------FPD-RFRG>A<ELKE-V-SSQESNAQ-A-NVGS--QEPADR | 129 |
| CNGA4 | ------------------------------>-<KVKT-T-ES--------------------- | 12 |
| CNGB1 | QELVKLFKERTEKV-KEKLIDPDVTSDEE->S<PKPSPA-KKAPEP-APD-TKPAEAE-PVEE | 623 |
| CNGB3 | HNLVKRMRQRTALY-KKKLVEGDLSS---->-<PEASPQ-TAKPTA-VPP-VKES--D-DKPT | 181 |
| HCN1 | --------------------------EDAE>G<PR-R-QYGFMQRQ--FT-SM----L-QPGV | 106 |
| HCN2 | --------------------------PAGE>P<RG-S-QASFMQRQ--FG-AL----L-QPGV | 175 |
| HCN3 | --------------------------PE-->-<---P-----KRRH--LG-TL----L-QPTV | 57 |
| HCN4 | --------------------------PEAE>V<RL-G-QAGFMQRQ--FG-AM----L-QPGV | 226 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Phe348Tyr | c.1043T>A | Unknown | SIFT: Polyphen: |