| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN1A | Q1923R | Partial epilepsy with febrile seizures plus | High | 8 | 22151702, 23773995 |
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 SCN5A.
| SCN5A | P-SKISYEPITTTLRRKHEEVS----AMVI>Q<RAF-RRHLLQRS--LKHA-SFLFRQ----- | 1930 |
| SCN1A | P-SKVSYQPITTTLKRKQEEVS----AVII>Q<RAY-RRHLLKRT--VKQA-SFTYNK----- | 1944 |
| SCN2A | P-SKVSYEPITTTLKRKQEEVS----AIII>Q<RAY-RRYLLKQK--VKKV-SSIYKK----- | 1934 |
| SCN3A | P-SKVSYEPITTTLKRKQEEVS----AAII>Q<RNF-RCYLLKQR--LKNI-SSNYNK----- | 1929 |
| SCN4A | P-SKVSYEPITTTLKRKHEEVC----AIKI>Q<RAY-RRHLLQRS--MKQA-SYMYRH----- | 1756 |
| SCN7A | P-FKITCEPITTTLKRKQEAVS----ATII>Q<RAY-KNYRLRRN--DKNT-SDIHMI----- | 1654 |
| SCN8A | P-SKVSYEPITTTLRRKQEEVS----AVVL>Q<RAY-RGHLARRG--FIC------------- | 1917 |
| SCN9A | P-SKVSYEPITTTLKRKQEDVS----ATVI>Q<RAY-RRYRLRQN--VKNI-SSIYIK----- | 1907 |
| SCN10A | L-SKSSYEPIATTLRWKQEDIS----ATVI>Q<KAY-RSYVLHRS--MALS-NTPCVP----- | 1880 |
| SCN11A | P-LKKLYEPIVTTTKRKEEERG----AAII>Q<KAF-RKYMMKVT--KGDQ-G-D--Q----- | 1759 |
| CACNA1A | L-SQKTLDLLVTPHKSTDLTVGKIYAAMMI>M<EYY-RQSKAKK--LQAMR-E---EQDRTPL | 1986 |
| CACNA1B | L-PQKTLDLLVPPHKPDEMTVGKVYAALMI>F<DFY-KQNKTTRDQMQQAPGG---LS----Q | 1884 |
| CACNA1C | T-SMKLLDQVVPPAGDDEVTVGKFYATFLI>Q<EYF-RKFKKRKE--QGLV-GK--PS----- | 1644 |
| CACNA1D | T-SMKLLDQVVPPAGDDEVTVGKFYATFLI>Q<DYF-RKFKKRKE--QGLV-GK-YPA----- | 1653 |
| CACNA1E | L-SQKMLDLLVPMPKASDLTVGKIYAAMMI>M<DYY-KQSKVKKQ--RQQL-E---EQ-KNAP | 1897 |
| CACNA1F | M-KQKLLDEVIPPPDEEEVTVGKFYATFLI>Q<DYF-RKFRRRKE--KGLL-GN-DAA----- | 1610 |
| CACNA1G | PGGQPSAFPSAPSLGGSDP-----QIPLAE>M<EAL-SLTSEIVS--EPSC------------ | 1996 |
| CACNA1H | YM----FRPVVPASAPHPR-----PLQEVE>M<ETYGAGTPLGSV--ASVH-SP-PAE-SCAS | 1978 |
| CACNA1I | SI----FHHYSSPAGCKKCHHDKQEVQLAE>T<EAF-SLNSDRSS--SILL-GD-DLS-LEDP | 1877 |
| CACNA1S | T-SMKLLDQVIPPIGDDEVTVGKFYATFLI>Q<EHF-RKFMKRQE--EYY--GY--RP----- | 1548 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Q1909R | c.5726A>G | Inherited Arrhythmia | LQTS | rs199473326 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999 | |||
| Inherited Arrhythmia | LQTS | The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome. Heart Rhythm. 2015 12(6):1241-9. doi: 10.1016/j.hrthm.2015.03.013. 25757662 | |||