| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGB1 | R762C | Retinitis pigmentosa | Medium | 6 | 21987686, 24339724 |
| CNGA3 | R274K | Cone dystrophy | Medium | 6 | 24903488 |
| CNGA3 | R274S | Achromatopsia | Medium | 6 |
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 | ----------------------------LI>G<LLKTARLLRLVRVARKLDRY-----SEYGA | 547 |
| KCNH1 | DPGKIGFADQ---IPPPLEGRESQGISSLF>S<SLKVVRLLRLGRVARKLDHY-----IEYGA | 376 |
| KCNH3 | ---------V---Y-------------FGA>H<LLKTVRLLRLLRLLPRLDRY-----SQYSA | 357 |
| KCNH4 | ---------V---T-------------SLV>H<LLKTVRLLRLLRLLQKLERY-----SQCSA | 359 |
| KCNH5 | -------------------------ISSLF>S<SLKVVRLLRLGRVARKLDHY-----LEYGA | 346 |
| KCNH6 | ---------T---T-------------TLI>G<LLKTARLLRLVRVARKLDRY-----SEYGA | 398 |
| KCNH7 | ---------T---T-------------TLI>G<LLKTARLLRLVRVARKLDRY-----SEYGA | 549 |
| KCNH8 | ---------V---V-------------SLV>H<LLKTVRLLRLLRLLQKLDRY-----SQHST | 353 |
| CNGA1 | ---------------------------PEI>R<LNRLLRFSRMFEFFQRTETR-----TNYPN | 296 |
| CNGA2 | ---------------------------PEV>R<FNRLLHFARMFEFFDRTETR-----TNYPN | 271 |
| CNGA3 | ---------------------------PEV>R<FNRLLKFSRLFEFFDRTETR-----TNYPN | 299 |
| CNGA4 | ---------------------------PTL>R<LNRFLRAPRLFEAFDRTETR-----TAYPN | 165 |
| CNGB1 | ---------------------------PLL>R<LPRCLKYMAFFEFNSRLESI-----LSKAY | 787 |
| CNGB3 | ---------------------------PMF>R<ANRMLKYTSFFEFNHHLESI-----MDKAY | 349 |
| HCN1 | YKTARALR-IVRFT-------------KIL>S<LLRLLRLSRLIRYIHQWEEIFHMTYDLASA | 294 |
| HCN2 | YKTARALR-IVRFT-------------KIL>S<LLRLLRLSRLIRYIHQWEEIFHMTYDLASA | 363 |
| HCN3 | YKTARALR-IVRFT-------------KIL>S<LLRLLRLSRLIRYIHQWEEIFHMTYDLASA | 247 |
| HCN4 | YKTARALR-IVRFT-------------KIL>S<LLRLLRLSRLIRYIHQWEEIFHMTYDLASA | 414 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G522R | c.1564G>A | Inherited Arrhythmia | LQTS | rs199473514 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | ||
| p.G522E | c.1565G>A | Putative Benign | SIFT: Polyphen: | ||