Paralogue Annotation for CACNA1C residue 238

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 238
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 238

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AT220INodal rhythmMedium9 14523039, 15671429, 20448214, 20539757, 22685113, 23414114, 24055113, 24136861, 24613995, 24784157, 25171853, 25637381, 26636822
SCN1AT217KMyoclonic epilepsy of infancyMedium9 17054684
SCN2AT218KEpilepsy 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.



CACNA1CSAILEQATKA-DGANALGGKGAGFDVKALR>A<FRVLRPLRLVSGVPSLQVVLNSIIKAMVPL268
CACNA1AATVGTEF-----------------DLRTLR>A<VRVLRPLKLVSGIPSLQVVLKSIMKAMIPL226
CACNA1BATAGTDF-----------------DLRTLR>A<VRVLRPLKLVSGIPSLQVVLKSIMKAMVPL223
CACNA1DSVILEQLTKETEGGNHSSGKSGGFDVKALR>A<FRVLRPLRLVSGVPSLQVVLNSIIKAMVPL271
CACNA1EATAGTHFN-------------THVDLRTLR>A<VRVLRPLKLVSGIPSLQIVLKSIMKAMVPL221
CACNA1FSVLLEQGPGRPGDAPHTGGKPGGFDVKALR>A<FRVLRPLRLVSGVPSLHIVLNSIMKALVPL237
CACNA1GEYSLDLQ---------------NVSFSAVR>T<VRVLRPLRAINRVPSMRILVTLLLDTLPML211
CACNA1HEYSLDGH---------------NVSLSAIR>T<VRVLRPLRAINRVPSMRILVTLLLDTLPML230
CACNA1IEYSLDLQ---------------NINLSAIR>T<VRVLRPLKAINRVPSMRILVNLLLDTLPML209
CACNA1STVILEQVNVIQSHTAPMSSKGAGLDVKALR>A<FRVLRPLRLVSGVPSLQVVLNSIFKAMLPL196
SCN10AGTAIDLR-----------------GISGLR>T<FRVLRALKTVSVIPGLKVIVGALIHSVKKL246
SCN11ASYIPGIT----------------IKLLPLR>T<FRVFRALKAISVVSRLKVIVGALLRSVKKL253
SCN1ATEFVDLG-----------------NVSALR>T<FRVLRALKTISVIPGLKTIVGALIQSVKKL247
SCN2ATEFVDLG-----------------NVSALR>T<FRVLRALKTISVIPGLKTIVGALIQSVKKL248
SCN3ATEFVDLG-----------------NVSALR>T<FRVLRALKTISVIPGLKTIVGALIQSVKKL247
SCN4ATEFVDLG-----------------NISALR>T<FRVLRALKTITVIPGLKTIVGALIQSVKKL250
SCN5ASENIKLG-----------------NLSALR>T<FRVLRALKTISVIPGLKTIVGALIQSVKKL250
SCN7AIRYSPLD-----------------FIPTLQ>T<ARTLRILKIIPLNQGLKSLVGVLIHCLKQL237
SCN8ATEFVNLG-----------------NVSALR>T<FRVLRALKTISVIPGLKTIVGALIQSVKKL251
SCN9ATEFVNLG-----------------NVSALR>T<FRVLRALKTISVIPGLKTIVGALIQSVKKL245
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 238 for CACNA1C.