No paralogue variants have been mapped to residue 369 for KCNH2.
KCNH2 | PFLASP-T-SDREII-AP-KIK-E--R-TH>N<V-TEKVTQVL---SLGADVL-PEYKLQAPR | 394 |
KCNH1 | RALTSS-R-GVLQQL-APS-VQKG--E-NV>H<K-HSRLAEVL---QLGSDIL-PQYKQEAPK | 204 |
KCNH3 | ANRRRS-R-AVLYHL-SGH-LQK---Q-PK>G<--KHKLNKGV---FGEKPNL-PEYKVAAIR | 211 |
KCNH4 | SARRRS-R-TVLHRL-TGH-FGR---R-GQ>G<--GMKANNNV---FEPKPSV-PEYKVASVG | 213 |
KCNH5 | RALTNS-R-SVLQQL-TPM-NKT---E-VV>H<K-HSRLAEVL---QLGSDIL-PQYKQEAPK | 201 |
KCNH6 | KHRSSS-T-TEIEII-APHKVV-E--R-TQ>N<V-TEKVTQVL---SLGADVL-PEYKLQAPR | 243 |
KCNH7 | KKNSSPPS-SDKTII-AP-KVK-D--R-TH>N<V-TEKVTQVL---SLGADVL-PEYKLQTPR | 394 |
KCNH8 | SARRRS-R-AVLYHI-SGH-LQR---R-EK>N<--KLKINNNV---FVDKPAF-PEYKVSDAK | 208 |
CNGA1 | EKKSKS-D-DKNENKNDPE-KK-------->-<---K-KKKD-KEKKKK--EEKSKDKKEEEK | 152 |
CNGA2 | GPELQT-V-TTQEGDGKG--D--------->-<-------------------KDGEDKGTKKK | 127 |
CNGA3 | GAELKE-V-SSQESNAQ-A-NVGS--QEPA>D<RGRS-AWPLAKCNTNTSNN-TEEE-KKTKK | 155 |
CNGA4 | --KVKT-T-ES------------------->-<---------------------SPPAPSKAR | 21 |
CNGB1 | -SPKPSPA-KKAPEP-APD-TKPAEAE-PV>E<E-EHYCDMLC----CKFKHR-PW----KKY | 642 |
CNGB3 | --PEASPQ-TAKPTA-VPP-VKES--D-DK>P<T-EHYYRLLW----FKVKKM-PLTEYLKRI | 204 |
HCN1 | EGPR-R-QYGFMQRQ--FT-SM----L-QP>G<V-NKF-SLRM---FGSQKAV-EKEQERVKT | 129 |
HCN2 | EPRG-S-QASFMQRQ--FG-AL----L-QP>G<V-NKF-SLRM---FGSQKAV-EREQERVKS | 198 |
HCN3 | -----P-----KRRH--LG-TL----L-QP>T<V-NKF-SLRV---FGSHKAV-EIEQERVKS | 80 |
HCN4 | EVRL-G-QAGFMQRQ--FG-AM----L-QP>G<V-NKF-SLRM---FGSQKAV-EREQERVKS | 249 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N369K | c.1107T>G | Putative Benign | SIFT: Polyphen: |