No paralogue variants have been mapped to residue 367 for KCNH2.
| KCNH2 | GDPFLASP-T-SDREII-AP-KIK-E--R->T<HNV-TEKVTQVL---SLGADVL-PEYKLQA | 392 |
| KCNH1 | LTRALTSS-R-GVLQQL-APS-VQKG--E->N<VHK-HSRLAEVL---QLGSDIL-PQYKQEA | 202 |
| KCNH3 | FNANRRRS-R-AVLYHL-SGH-LQK---Q->P<KG--KHKLNKGV---FGEKPNL-PEYKVAA | 209 |
| KCNH4 | FRSARRRS-R-TVLHRL-TGH-FGR---R->G<QG--GMKANNNV---FEPKPSV-PEYKVAS | 211 |
| KCNH5 | LTRALTNS-R-SVLQQL-TPM-NKT---E->V<VHK-HSRLAEVL---QLGSDIL-PQYKQEA | 199 |
| KCNH6 | LEKHRSSS-T-TEIEII-APHKVV-E--R->T<QNV-TEKVTQVL---SLGADVL-PEYKLQA | 241 |
| KCNH7 | TEKKNSSPPS-SDKTII-AP-KVK-D--R->T<HNV-TEKVTQVL---SLGADVL-PEYKLQT | 392 |
| KCNH8 | FDSARRRS-R-AVLYHI-SGH-LQR---R->E<KN--KLKINNNV---FVDKPAF-PEYKVSD | 206 |
| CNGA1 | KKEKKSKS-D-DKNENKNDPE-KK------>-<-----K-KKKD-KEKKKK--EEKSKDKKEE | 150 |
| CNGA2 | FRGPELQT-V-TTQEGDGKG--D------->-<---------------------KDGEDKGTK | 125 |
| CNGA3 | FRGAELKE-V-SSQESNAQ-A-NVGS--QE>P<ADRGRS-AWPLAKCNTNTSNN-TEEE-KKT | 153 |
| CNGA4 | ----KVKT-T-ES----------------->-<-----------------------SPPAPSK | 19 |
| CNGB1 | EE-SPKPSPA-KKAPEP-APD-TKPAEAE->P<VEE-EHYCDMLC----CKFKHR-PW----K | 640 |
| CNGB3 | ----PEASPQ-TAKPTA-VPP-VKES--D->D<KPT-EHYYRLLW----FKVKKM-PLTEYLK | 202 |
| HCN1 | DAEGPR-R-QYGFMQRQ--FT-SM----L->Q<PGV-NKF-SLRM---FGSQKAV-EKEQERV | 127 |
| HCN2 | AGEPRG-S-QASFMQRQ--FG-AL----L->Q<PGV-NKF-SLRM---FGSQKAV-EREQERV | 196 |
| HCN3 | E------P-----KRRH--LG-TL----L->Q<PTV-NKF-SLRV---FGSHKAV-EIEQERV | 78 |
| HCN4 | EAEVRL-G-QAGFMQRQ--FG-AM----L->Q<PGV-NKF-SLRM---FGSQKAV-EREQERV | 247 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T367S | c.1099A>T | Putative Benign | rs199472890 | SIFT: tolerated Polyphen: benign | |
| Reports | Putative Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | |||
| Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||