Paralogue Annotation for CACNA1C residue 260

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 260
Reference Amino Acid: S - Serine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 260

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FS229PNight blindness, congenital stationary, incompleteHigh9 12111638, 15634789
CACNA1AS218LHemiplegic migraineHigh9 11409427, 18581134, 19104150, 19242091, 19438926, 21824570, 22144569, 15743764, 23985897, 20186955, 23115190, 24849341, 20071244, 25716839, 25741235, 24498617, 26208839, 27476654, 26814174
SCN1AA239TMyoclonic epilepsy of infancyMedium9 17347258, 24168886
SCN1AA239VMyoclonic epilepsy of infancyMedium9 19303743
SCN2AA240SEpilepsy of infancy with migrating focal seizuresMedium9 26291284

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 CACNA1C.



CACNA1CGFDVKALRAFRVLRPLRLVSGVPSLQVVLN>S<IIKAMVPLLHIALLVLFVIIIYAIIGLELF290
CACNA1A--DLRTLRAVRVLRPLKLVSGIPSLQVVLK>S<IMKAMIPLLQIGLLLFFAILIFAIIGLEFY248
CACNA1B--DLRTLRAVRVLRPLKLVSGIPSLQVVLK>S<IMKAMVPLLQIGLLLFFAILMFAIIGLEFY245
CACNA1DGFDVKALRAFRVLRPLRLVSGVPSLQVVLN>S<IIKAMVPLLHIALLVLFVIIIYAIIGLELF293
CACNA1EHVDLRTLRAVRVLRPLKLVSGIPSLQIVLK>S<IMKAMVPLLQIGLLLFFAILMFAIIGLEFY243
CACNA1FGFDVKALRAFRVLRPLRLVSGVPSLHIVLN>S<IMKALVPLLHIALLVLFVIIIYAIIGLELF259
CACNA1GNVSFSAVRTVRVLRPLRAINRVPSMRILVT>L<LLDTLPMLGNVLLLCFFVFFIFGIVGVQLW233
CACNA1HNVSLSAIRTVRVLRPLRAINRVPSMRILVT>L<LLDTLPMLGNVLLLCFFVFFIFGIVGVQLW252
CACNA1ININLSAIRTVRVLRPLKAINRVPSMRILVN>L<LLDTLPMLGNVLLLCFFVFFIFGIIGVQLW231
CACNA1SGLDVKALRAFRVLRPLRLVSGVPSLQVVLN>S<IFKAMLPLFHIALLVLFMVIIYAIIGLELF218
SCN10A--GISGLRTFRVLRALKTVSVIPGLKVIVG>A<LIHSVKKLADVTILTIFCLSVFALVGLQLF268
SCN11A-IKLLPLRTFRVFRALKAISVVSRLKVIVG>A<LLRSVKKLVNVIILTFFCLSIFALVGQQLF275
SCN1A--NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF269
SCN2A--NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF270
SCN3A--NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF269
SCN4A--NISALRTFRVLRALKTITVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALVGLQLF272
SCN5A--NLSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLADVMVLTVFCLSVFALIGLQLF272
SCN7A--FIPTLQTARTLRILKIIPLNQGLKSLVG>V<LIHCLKQLIGVIILTLFFLSIFSLIGMGLF259
SCN8A--NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF273
SCN9A--NVSALRTFRVLRALKTISVIPGLKTIVG>A<LIQSVKKLSDVMILTVFCLSVFALIGLQLF267
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 260 for CACNA1C.