No paralogue variants have been mapped to residue 340 for KCNH2.
KCNH2 | SGLLNSTSDSDLVRYR---TISKIPQITLN>F<VDLKGDPFLASP-T-SDREII-AP-KIK-E | 365 |
KCNH1 | -------------KFA-------------->-<---RLTRALTSS-R-GVLQQL-APS-VQKG | 175 |
KCNH3 | --------------S--------------->-<--KGFNANRRRS-R-AVLYHL-SGH-LQK- | 183 |
KCNH4 | --------------A--------------->-<-TWKFRSARRRS-R-TVLHRL-TGH-FGR- | 185 |
KCNH5 | -------------KFA-------------->-<---RLTRALTNS-R-SVLQQL-TPM-NKT- | 172 |
KCNH6 | ---------TGRGKYR---TISQIPQFTLN>F<VEFNLEKHRSSS-T-TEIEII-APHKVV-E | 214 |
KCNH7 | SSLLGSTSDSNLNKYS---TINKIPQLTLN>F<SEVKTEKKNSSPPS-SDKTII-AP-KVK-D | 365 |
KCNH8 | --------------A--------------->-<-GTHFDSARRRS-R-AVLYHI-SGH-LQR- | 180 |
CNGA1 | ------------------------------>K<KK-KKKEKKSKS-D-DKNENKNDPE-KK-- | 129 |
CNGA2 | ------------------------------>F<LE-RFRGPELQT-V-TTQEGDGKG--D--- | 116 |
CNGA3 | ------------------------------>F<PD-RFRGAELKE-V-SSQESNAQ-A-NVGS | 123 |
CNGA4 | ------------------------------>-<--------KVKT-T-ES------------- | 12 |
CNGB1 | SAIINDRLQELVKLFKERTEKV-KEKLIDP>D<VTSDEE-SPKPSPA-KKAPEP-APD-TKPA | 616 |
CNGB3 | NEYADAQLHNLVKRMRQRTALY-KKKLVEG>D<LSS-----PEASPQ-TAKPTA-VPP-VKES | 176 |
HCN1 | ------------------------------>-<---EDAEGPR-R-QYGFMQRQ--FT-SM-- | 101 |
HCN2 | ------------------------------>-<---PAGEPRG-S-QASFMQRQ--FG-AL-- | 170 |
HCN3 | ------------------------------>-<---PE------P-----KRRH--LG-TL-- | 52 |
HCN4 | ------------------------------>-<---PEAEVRL-G-QAGFMQRQ--FG-AM-- | 221 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F340L | c.1020T>G | Putative Benign | SIFT: Polyphen: |