Paralogue Annotation for KCNH2 residue 365

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 365
Reference Amino Acid: E - Glutamate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 365

No paralogue variants have been mapped to residue 365 for KCNH2.



KCNH2FVDLKGDPFLASP-T-SDREII-AP-KIK->E<--R-THNV-TEKVTQVL---SLGADVL-PE387
KCNH1----RLTRALTSS-R-GVLQQL-APS-VQK>G<--E-NVHK-HSRLAEVL---QLGSDIL-PQ197
KCNH3---KGFNANRRRS-R-AVLYHL-SGH-LQK>-<--Q-PKG--KHKLNKGV---FGEKPNL-PE204
KCNH4--TWKFRSARRRS-R-TVLHRL-TGH-FGR>-<--R-GQG--GMKANNNV---FEPKPSV-PE206
KCNH5----RLTRALTNS-R-SVLQQL-TPM-NKT>-<--E-VVHK-HSRLAEVL---QLGSDIL-PQ194
KCNH6FVEFNLEKHRSSS-T-TEIEII-APHKVV->E<--R-TQNV-TEKVTQVL---SLGADVL-PE236
KCNH7FSEVKTEKKNSSPPS-SDKTII-AP-KVK->D<--R-THNV-TEKVTQVL---SLGADVL-PE387
KCNH8--GTHFDSARRRS-R-AVLYHI-SGH-LQR>-<--R-EKN--KLKINNNV---FVDKPAF-PE201
CNGA1KKK-KKKEKKSKS-D-DKNENKNDPE-KK->-<----------K-KKKD-KEKKKK--EEKSK145
CNGA2FLE-RFRGPELQT-V-TTQEGDGKG--D-->-<--------------------------KDGE120
CNGA3FPD-RFRGAELKE-V-SSQESNAQ-A-NVG>S<--QEPADRGRS-AWPLAKCNTNTSNN-TEE149
CNGA4---------KVKT-T-ES------------>-<----------------------------SP14
CNGB1DVTSDEE-SPKPSPA-KKAPEP-APD-TKP>A<EAE-PVEE-EHYCDMLC----CKFKHR-PW639
CNGB3DLSS-----PEASPQ-TAKPTA-VPP-VKE>S<--D-DKPT-EHYYRLLW----FKVKKM-PL197
HCN1----EDAEGPR-R-QYGFMQRQ--FT-SM->-<--L-QPGV-NKF-SLRM---FGSQKAV-EK122
HCN2----PAGEPRG-S-QASFMQRQ--FG-AL->-<--L-QPGV-NKF-SLRM---FGSQKAV-ER191
HCN3----PE------P-----KRRH--LG-TL->-<--L-QPTV-NKF-SLRV---FGSHKAV-EI73
HCN4----PEAEVRL-G-QAGFMQRQ--FG-AM->-<--L-QPGV-NKF-SLRM---FGSQKAV-ER242
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E365Gc.1094A>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC Cardiovasc Disord. 2012 12:95. doi: 10.1186/1471-2261-12-95. 23098067