Paralogue Annotation for KCNH2 residue 1146

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1146
Reference Amino Acid: T - Threonine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1146

No paralogue variants have been mapped to residue 1146 for KCNH2.



KCNH2---EG--------PTRRLSLPGQL---GAL>T<SQP-LHRHGSDPG-----------------1158
KCNH1--------------------SQSP---QEL>F<EISRPQSPESERDIFGA-------------988
KCNH3TPAS-------PPPSEEGAR-TGP---AEP>V<SQAEATSTGEPPPGSGGLALPWDPHSLEMV1063
KCNH4-----------PSPVPEASPPTPS---LLR>H<SFQSRSDTF---------------------1016
KCNH5SPKSQM------PLQVP--PQIPC---QDI>F<SVSRPESPESDKDEIH--------------987
KCNH6-------------P-CFSSLPEHL---GSV>P<KQLDFQRHGSDPGFAGSWG-----------993
KCNH7KTYVH--------PIRHPSLPDSS---LST>V<GIVGLHRHVSDPGLPG--------------1195
KCNH8SSSETSLHLVLPSRSEEGSFSQGT---VSS>F<SLENLPGSWNQEGMASASTKPLENLPLEVV1093
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1------------------MSPGPEPGEQIL>S<VKMPEEREE-KAE-----------------1251
CNGB3------------------MAPSAEGGEEVL>T<IEVKEKAKQ---------------------809
HCN1PP--------------AAALPRES---SSV>L<NTD-P-DAEKP-RFASN-------------889
HCN2RR--------------DSASPGAA---GG->-<-LD-PQDSARS-RLSSN-------------888
HCN3VP--------------EPATP--------->-<--------RGL-QLSAN-------------773
HCN4-P--------------LTAGPQRE---PG->-<-AR-P-EPVRS-KLPSN-------------1202
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T1146Sc.3436A>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc. 2012 87(6):524-39. doi: 10.1016/j.mayocp.2012.02.017. 22677073