Paralogue Annotation for KCNH2 residue 670

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 670
Reference Amino Acid: T - Threonine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 670

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3R410WColour-blindness, totalMedium9 9662398
HCN4R524QInappropriate sinus tachycardiaMedium9 26553542, 26553542

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.



KCNH2FSICVMLIGSLMYASIFGNVSAIIQRLYSG>T<ARYHTQMLRVREFIRFHQIPNPLRQRLEEY700
KCNH1FAVAIMMIGSLLYATIFGNVTTIFQQMYAN>T<NRYHEMLNSVRDFLKLYQVPKGLSERVMDY539
KCNH3FSICTMLIGALMHAVVFGNVTAIIQRMYAR>R<FLYHSRTRDLRDYIRIHRIPKPLKQRMLEY541
KCNH4FSICTMLIGALMHAVVFGNVTAIIQRMYSR>R<SLYHSRMKDLKDFIRVHRLPRPLKQRMLEY515
KCNH5FSVAMMMVGSLLYATIFGNVTTIFQQMYAN>T<NRYHEMLNNVRDFLKLYQVPKGLSERVMDY508
KCNH6FSICVMLIGSLMYASIFGNVSAIIQRLYSG>T<ARYHTQMLRVKEFIRFHQIPNPLRQRLEEY552
KCNH7FSICVMLIGSLMYASIFGNVSAIIQRLYSG>T<ARYHMQMLRVKEFIRFHQIPNPLRQRLEEY703
KCNH8FSICTMLIGALMHALVFGNVTAIIQRMYSR>W<SLYHTRTKDLKDFIRVHHLPQQLKQRMLEY510
CNGA1FVVVDFLIGVLIFATIVGNIGSMISNMNAA>R<AEFQARIDAIKQYMHFRNVSKDMEKRVIKW437
CNGA2FVIFDFLIGVLIFATIVGNVGSMISNMNAT>R<AEFQAKIDAVKHYMQFRKVSKGMEAKVIRW412
CNGA3FVVVDFLVGVLIFATIVGNVGSMISNMNAS>R<AEFQAKIDSIKQYMQFRKVTKDLETRVIRW440
CNGA4FMVGDFLLAVMGFATIMGSMSSVIYNMNTA>D<AAFYPDHALVKKYMKLQHVNRKLERRVIDW306
CNGB1FQLLNYFTGVFAFSVMIGQMRDVVGAATAG>Q<TYYRSCMDSTVKYMNFYKIPKSVQNRVKTW920
CNGB3FQLLNFFSGVFVFSSLIGQMRDVIGAATAN>Q<NYFRACMDDTIAYMNNYSIPKLVQKRVRTW482
HCN1ITMLSMIVGATCYAMFVGHATALIQSLDSS>R<RQYQEKYKQVEQYMSFHKLPADMRQKIHDY434
HCN2LTMLSMIVGATCYAMFIGHATALIQSLDSS>R<RQYQEKYKQVEQYMSFHKLPADFRQKIHDY503
HCN3LTMLSMIVGATCYAMFIGHATALIQSLDSS>R<RQYQEKYKQVEQYMSFHKLPADTRQRIHEY387
HCN4LTMLSMIVGATCYAMFIGHATALIQSLDSS>R<RQYQEKYKQVEQYMSFHKLPPDTRQRIHDY554
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 670 for KCNH2.