| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGB3 | P309L | Achromatopsia | High | 9 | 15657609, 26106334 |
| CNGA3 | P258R | Cone dystrophy | High | 9 | 24903488 |
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.
| KCNH2 | ANEEVVSHPGRIAVHYFKGW-FLIDMVAAI>P<FDLLIFGSGSEE------------------ | 519 |
| KCNH1 | PAGEVISDPKLIRMNYLKTW-FVIDLLSCL>P<YDVINAFENVDEVSAFMGDPGKIGFADQ-- | 333 |
| KCNH3 | KSGQVVFAPKSICLHYVTTW-FLLDVIAAL>P<FDLLHAF-KVN----------------V-- | 327 |
| KCNH4 | QSGQVISAPRSIGLHYLATW-FFIDLIAAL>P<FDLLYIF-NIT----------------V-- | 329 |
| KCNH5 | PGGEVISDPKLIRMNYLKTW-FVIDLLSCL>P<YDIINAFENVDEG----------------- | 315 |
| KCNH6 | TNDEVVSHPRRIAVHYFKGW-FLIDMVAAI>P<FDLLIFRTGSDE---------------T-- | 368 |
| KCNH7 | QNEEVVSDPAKIAIHYFKGW-FLIDMVAAI>P<FDLLIFGSGSDE---------------T-- | 519 |
| KCNH8 | KSGQVIFEARSICIHYVTTW-FIIDLIAAL>P<FDLLYAF-NVT----------------V-- | 323 |
| CNGA1 | -QGLLVKEELKLINKYKSNLQFKLDVLSLI>P<TDLLYFKLGWNY------------------ | 267 |
| CNGA2 | -QGLLVKDTKKLRDNYIHTLQFKLDVASII>P<TDLIYFAVDIHS------------------ | 242 |
| CNGA3 | -QGLMVSDTNRLWQHYKTTTQFKLDVLSLV>P<TDLAYLKVGTNY------------------ | 270 |
| CNGA4 | -QGILVVDKGRISSRYVRTWSFFLDLASLM>P<TDVVYVRLGPHT------------------ | 136 |
| CNGB1 | -GGDIITDKKDMRNNYLKSRRFKMDLLSLL>P<LDFLYLKVGVN------------------- | 758 |
| CNGB3 | -GGDIIVDSNELRKHYRTSTKFQLDVASII>P<FDICYLFFGFN------------------- | 320 |
| HCN1 | DSSEIILDPKVIKMNYLKSW-FVVDFISSI>P<VDYIFLIVEK--GMDSEVYKTARALR-IVR | 258 |
| HCN2 | DNTEIILDPEKIKKKYLRTW-FVVDFVSSI>P<VDYIFLIVEK--GIDSEVYKTARALR-IVR | 327 |
| HCN3 | EGAEILLAPRAIRTRYLRTW-FLVDLISSI>P<VDYIFLVVELEPRLDAEVYKTARALR-IVR | 211 |
| HCN4 | DNTEIILDPQRIKMKYLKSW-FMVDFISSI>P<VDYIFLIVET--RIDSEVYKTARALR-IVR | 378 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P507T | c.1519C>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome. Mol Diagn Ther. 2016 20(4):353-62. doi: 10.1007/s40291-016-0207-2. 27251404 | ||
| p.Pro507Leu | c.1520C>T | Unknown | SIFT: Polyphen: | ||
| p.Pro507Ser | c.1519C>T | Unknown | SIFT: Polyphen: | ||