Paralogue Annotation for KCNH2 residue 1117

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1117
Reference Amino Acid: C - Cysteine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1117

No paralogue variants have been mapped to residue 1117 for KCNH2.



KCNH2PLL-----PVSPLP-TLTLDSLSQVSQFMA>C<EELPPGAPELPQ------------------1129
KCNH1VRH-----ELKEDIKALNAKMTNIEKQLSE>I<LRILTSRRS---------------------963
KCNH3PASTSGLLQPLCVDTGASSYCLQPPAGSVL>S<GTWPHPRPGPPPL--MAPWPWG-------P979
KCNH4PQL-----RP-----PCLSPCASRPPPSLQ>D<TTLAEVH-CPASV--GTMETG--------T969
KCNH5VKH-----ELKEDIQLLSCRMTALEKQVAE>I<LKILSEKSVPQ-------------------949
KCNH6QEQ-----PEGLWP-PLASPLHPLEVQGLI>C<G-----------------------------960
KCNH7IKT-----DRSFSPSSQCPEFLDLEKSKLK>S<KESLSSGVHLNTA--SEDNLTSL-------1143
KCNH8LHL-----QTGGAAYTQAQLCSSNITSDIW>S<VDPSSVGSSPQRT--GAHEQNPADSELYHS988
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1GPA-----EPEEHSVRIC------------>-<------------------------------1226
CNGB3LPR-----GTSRQSLIIS------------>-<------------------------------787
HCN1ST--------------VP-QRVTLFRQMSS>G<AIP------PNRGVPPAPP-----------861
HCN2T-------------PRLG-P---------->-<------TP-AARAAAPSPD-----------862
HCN3E-------------R-LP-PSGLL------>-<AKP------PRTAQPPRPP-----------758
HCN4GLG-----PPGRPYGAIPGQHVTLPRKTSS>G<SLPPPLSLFGARATSSGGP-----------1178
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Cys1117Tyrc.3350G>A UnknownSIFT:
Polyphen: