No paralogue variants have been mapped to residue 346 for KCNH2.
KCNH2 | TSDSDLVRYR---TISKIPQITLNFVDLKG>D<PFLASP-T-SDREII-AP-KIK-E--R-TH | 368 |
KCNH1 | -------KFA------------------RL>T<RALTSS-R-GVLQQL-APS-VQKG--E-NV | 178 |
KCNH3 | --------S------------------KGF>N<ANRRRS-R-AVLYHL-SGH-LQK---Q-PK | 186 |
KCNH4 | --------A-----------------TWKF>R<SARRRS-R-TVLHRL-TGH-FGR---R-GQ | 188 |
KCNH5 | -------KFA------------------RL>T<RALTNS-R-SVLQQL-TPM-NKT---E-VV | 175 |
KCNH6 | ---TGRGKYR---TISQIPQFTLNFVEFNL>E<KHRSSS-T-TEIEII-APHKVV-E--R-TQ | 217 |
KCNH7 | TSDSNLNKYS---TINKIPQLTLNFSEVKT>E<KKNSSPPS-SDKTII-AP-KVK-D--R-TH | 368 |
KCNH8 | --------A-----------------GTHF>D<SARRRS-R-AVLYHI-SGH-LQR---R-EK | 183 |
CNGA1 | ------------------------KKK-KK>K<EKKSKS-D-DKNENKNDPE-KK-------- | 129 |
CNGA2 | ------------------------FLE-RF>R<GPELQT-V-TTQEGDGKG--D--------- | 116 |
CNGA3 | ------------------------FPD-RF>R<GAELKE-V-SSQESNAQ-A-NVGS--QEPA | 127 |
CNGA4 | ------------------------------>-<--KVKT-T-ES------------------- | 12 |
CNGB1 | RLQELVKLFKERTEKV-KEKLIDPDVTSDE>E<-SPKPSPA-KKAPEP-APD-TKPAEAE-PV | 621 |
CNGB3 | QLHNLVKRMRQRTALY-KKKLVEGDLSS-->-<--PEASPQ-TAKPTA-VPP-VKES--D-DK | 179 |
HCN1 | ----------------------------ED>A<EGPR-R-QYGFMQRQ--FT-SM----L-QP | 104 |
HCN2 | ----------------------------PA>G<EPRG-S-QASFMQRQ--FG-AL----L-QP | 173 |
HCN3 | ----------------------------PE>-<-----P-----KRRH--LG-TL----L-QP | 55 |
HCN4 | ----------------------------PE>A<EVRL-G-QAGFMQRQ--FG-AM----L-QP | 224 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D346E | c.1038C>G | Putative Benign | SIFT: Polyphen: |