Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | SCN1A | A239T | Myoclonic epilepsy of infancy | High | 9 |
17347258, 24168886 |
SCN1A | A239V | Myoclonic epilepsy of infancy | High | 9 |
19303743 |
CACNA1F | S229P | Night blindness, congenital stationary, incomplete | Medium | 9 |
12111638, 15634789 |
CACNA1A | S218L | Hemiplegic migraine | Medium | 9 |
11409427, 18581134, 19104150, 19242091, 19438926, 21824570, 22144569, 15743764, 23985897, 20186955, 23115190, 24849341, 20071244, 25716839, 25741235, 24498617, 26208839, 27476654, 26814174 |
SCN2A | A240S | Epilepsy of infancy with migrating focal seizures | High | 9 |
26291284 |
SCN5A | --NLSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLADVMVLTVFCLSVFALIGLQLF | 272 |
SCN1A | --NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF | 269 |
SCN2A | --NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF | 270 |
SCN3A | --NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF | 269 |
SCN4A | --NISALRTFRVLRALKTITVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALVGLQLF | 272 |
SCN7A | --FIPTLQTARTLRILKIIPLNQGLKSLVG>V<LIHCLKQLIGVIILTLFFLSIFSLIGMGLF | 259 |
SCN8A | --NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF | 273 |
SCN9A | --NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF | 267 |
SCN10A | --GISGLRTFRVLRALKTVSVIPGLKVIVG>A<LIHSVKKLADVTILTIFCLSVFALVGLQLF | 268 |
SCN11A | -IKLLPLRTFRVFRALKAISVVSRLKVIVG>A<LLRSVKKLVNVIILTFFCLSIFALVGQQLF | 275 |
CACNA1A | --DLRTLRAVRVLRPLKLVSGIPSLQVVLK>S<IMKAMIPLLQIGLLLFFAILIFAIIGLEFY | 248 |
CACNA1B | --DLRTLRAVRVLRPLKLVSGIPSLQVVLK>S<IMKAMVPLLQIGLLLFFAILMFAIIGLEFY | 245 |
CACNA1C | GFDVKALRAFRVLRPLRLVSGVPSLQVVLN>S<IIKAMVPLLHIALLVLFVIIIYAIIGLELF | 290 |
CACNA1D | GFDVKALRAFRVLRPLRLVSGVPSLQVVLN>S<IIKAMVPLLHIALLVLFVIIIYAIIGLELF | 293 |
CACNA1E | HVDLRTLRAVRVLRPLKLVSGIPSLQIVLK>S<IMKAMVPLLQIGLLLFFAILMFAIIGLEFY | 243 |
CACNA1F | GFDVKALRAFRVLRPLRLVSGVPSLHIVLN>S<IMKALVPLLHIALLVLFVIIIYAIIGLELF | 259 |
CACNA1G | NVSFSAVRTVRVLRPLRAINRVPSMRILVT>L<LLDTLPMLGNVLLLCFFVFFIFGIVGVQLW | 233 |
CACNA1H | NVSLSAIRTVRVLRPLRAINRVPSMRILVT>L<LLDTLPMLGNVLLLCFFVFFIFGIVGVQLW | 252 |
CACNA1I | NINLSAIRTVRVLRPLKAINRVPSMRILVN>L<LLDTLPMLGNVLLLCFFVFFIFGIIGVQLW | 231 |
CACNA1S | GLDVKALRAFRVLRPLRLVSGVPSLQVVLN>S<IFKAMLPLFHIALLVLFMVIIYAIIGLELF | 218 |
cons | > < | |