Paralogue Annotation for CACNA1C residue 241

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 241
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 241

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV223LBrugada syndromeHigh9 20129283
SCN5AV223GSudden unexpected death in epilepsyHigh9 26704558
SCN1AV220DMalignant migrating partial seizures in infancyHigh9 26544041

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.



CACNA1CLEQATKA-DGANALGGKGAGFDVKALRAFR>V<LRPLRLVSGVPSLQVVLNSIIKAMVPLLHI271
CACNA1AGTEF-----------------DLRTLRAVR>V<LRPLKLVSGIPSLQVVLKSIMKAMIPLLQI229
CACNA1BGTDF-----------------DLRTLRAVR>V<LRPLKLVSGIPSLQVVLKSIMKAMVPLLQI226
CACNA1DLEQLTKETEGGNHSSGKSGGFDVKALRAFR>V<LRPLRLVSGVPSLQVVLNSIIKAMVPLLHI274
CACNA1EGTHFN-------------THVDLRTLRAVR>V<LRPLKLVSGIPSLQIVLKSIMKAMVPLLQI224
CACNA1FLEQGPGRPGDAPHTGGKPGGFDVKALRAFR>V<LRPLRLVSGVPSLHIVLNSIMKALVPLLHI240
CACNA1GLDLQ---------------NVSFSAVRTVR>V<LRPLRAINRVPSMRILVTLLLDTLPMLGNV214
CACNA1HLDGH---------------NVSLSAIRTVR>V<LRPLRAINRVPSMRILVTLLLDTLPMLGNV233
CACNA1ILDLQ---------------NINLSAIRTVR>V<LRPLKAINRVPSMRILVNLLLDTLPMLGNV212
CACNA1SLEQVNVIQSHTAPMSSKGAGLDVKALRAFR>V<LRPLRLVSGVPSLQVVLNSIFKAMLPLFHI199
SCN10AIDLR-----------------GISGLRTFR>V<LRALKTVSVIPGLKVIVGALIHSVKKLADV249
SCN11APGIT----------------IKLLPLRTFR>V<FRALKAISVVSRLKVIVGALLRSVKKLVNV256
SCN1AVDLG-----------------NVSALRTFR>V<LRALKTISVIPGLKTIVGALIQSVKKLSDV250
SCN2AVDLG-----------------NVSALRTFR>V<LRALKTISVIPGLKTIVGALIQSVKKLSDV251
SCN3AVDLG-----------------NVSALRTFR>V<LRALKTISVIPGLKTIVGALIQSVKKLSDV250
SCN4AVDLG-----------------NISALRTFR>V<LRALKTITVIPGLKTIVGALIQSVKKLSDV253
SCN5AIKLG-----------------NLSALRTFR>V<LRALKTISVIPGLKTIVGALIQSVKKLADV253
SCN7ASPLD-----------------FIPTLQTAR>T<LRILKIIPLNQGLKSLVGVLIHCLKQLIGV240
SCN8AVNLG-----------------NVSALRTFR>V<LRALKTISVIPGLKTIVGALIQSVKKLSDV254
SCN9AVNLG-----------------NVSALRTFR>V<LRALKTISVIPGLKTIVGALIQSVKKLSDV248
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 241 for CACNA1C.