Paralogue Annotation for KCNH2 residue 296

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 296
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 296

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGB1P544LRetinitis pigmentosa, autosomal recessiveLow1 24938718, 25356976

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.



KCNH2ESCASVRRASSADDIEAM--------RAGV>L<PPPPRHASTGAMHPLRSGLLNSTSDSDLVR326
KCNH1------------------------------>-<-----------------------------K150
KCNH3------------------------------>-<------------------------------
KCNH4------------------------------>-<------------------------------
KCNH5------------------------------>-<-----------------------------K148
KCNH6------------------------------>-<-------------------------TGRGK174
KCNH7ESLCSIRRASSVHDIEGFGVHPKNIFRDRH>A<SEDNGRNVKGPFNHIKSSLLGSTSDSNLNK325
KCNH8------------------------------>-<------------------------------
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1E---------ELKALSPAESPVVAWSDPTT>P<KDTDGQDRAASTASTNSAIINDRLQELVKL574
CNGB3----------EQKEMDPGKE------GPNS>P<QNK------PPAAPVINEYADAQLHNLVKR138
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 296 for KCNH2.