| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN1A | I227S | Myoclonic epilepsy of infancy | High | 9 | 12821740, 17054685, 23195492 |
| SCN1A | I227T | Dravet syndrome C ? | High | 9 | 21248271 |
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 | --------------NLSALRTFRVLRALKT>I<SVIPGLKTIVGALIQSVKKLADVMVLTVFC | 260 |
| SCN1A | --------------NVSALRTFRVLRALKT>I<SVIPGLKTIVGALIQSVKKLSDVMILTVFC | 257 |
| SCN2A | --------------NVSALRTFRVLRALKT>I<SVIPGLKTIVGALIQSVKKLSDVMILTVFC | 258 |
| SCN3A | --------------NVSALRTFRVLRALKT>I<SVIPGLKTIVGALIQSVKKLSDVMILTVFC | 257 |
| SCN4A | --------------NISALRTFRVLRALKT>I<TVIPGLKTIVGALIQSVKKLSDVMILTVFC | 260 |
| SCN7A | --------------FIPTLQTARTLRILKI>I<PLNQGLKSLVGVLIHCLKQLIGVIILTLFF | 247 |
| SCN8A | --------------NVSALRTFRVLRALKT>I<SVIPGLKTIVGALIQSVKKLSDVMILTVFC | 261 |
| SCN9A | --------------NVSALRTFRVLRALKT>I<SVIPGLKTIVGALIQSVKKLSDVMILTVFC | 255 |
| SCN10A | --------------GISGLRTFRVLRALKT>V<SVIPGLKVIVGALIHSVKKLADVTILTIFC | 256 |
| SCN11A | -------------IKLLPLRTFRVFRALKA>I<SVVSRLKVIVGALLRSVKKLVNVIILTFFC | 263 |
| CACNA1A | --------------DLRTLRAVRVLRPLKL>V<SGIPSLQVVLKSIMKAMIPLLQIGLLLFFA | 236 |
| CACNA1B | --------------DLRTLRAVRVLRPLKL>V<SGIPSLQVVLKSIMKAMVPLLQIGLLLFFA | 233 |
| CACNA1C | -DGANALGGKGAGFDVKALRAFRVLRPLRL>V<SGVPSLQVVLNSIIKAMVPLLHIALLVLFV | 278 |
| CACNA1D | TEGGNHSSGKSGGFDVKALRAFRVLRPLRL>V<SGVPSLQVVLNSIIKAMVPLLHIALLVLFV | 281 |
| CACNA1E | -----------THVDLRTLRAVRVLRPLKL>V<SGIPSLQIVLKSIMKAMVPLLQIGLLLFFA | 231 |
| CACNA1F | PGDAPHTGGKPGGFDVKALRAFRVLRPLRL>V<SGVPSLHIVLNSIMKALVPLLHIALLVLFV | 247 |
| CACNA1G | ------------NVSFSAVRTVRVLRPLRA>I<NRVPSMRILVTLLLDTLPMLGNVLLLCFFV | 221 |
| CACNA1H | ------------NVSLSAIRTVRVLRPLRA>I<NRVPSMRILVTLLLDTLPMLGNVLLLCFFV | 240 |
| CACNA1I | ------------NINLSAIRTVRVLRPLKA>I<NRVPSMRILVNLLLDTLPMLGNVLLLCFFV | 219 |
| CACNA1S | QSHTAPMSSKGAGLDVKALRAFRVLRPLRL>V<SGVPSLQVVLNSIFKAMLPLFHIALLVLFM | 206 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I230T | c.689T>C | Other Cardiac Phenotype | rs199473073 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Other Cardiac Phenotype | A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease. Hum Mutat. 2010 31(8):E1609-21. 20564468 | |||
| p.I230V | c.688A>G | Inherited Arrhythmia | BrS | rs199473074 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046 | ||