Paralogue Annotation for CACNA1C residue 244

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 244
Reference Amino Acid: P - Proline
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 244

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AA226VBrugada syndromeMedium9 11901046, 24136861, 25829473
SCN1AA223EDravet syndromeMedium9 18930999
SCN5AA226DVentricular fibrillation, idiopathicMedium9 22028457

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.



CACNA1CATKA-DGANALGGKGAGFDVKALRAFRVLR>P<LRLVSGVPSLQVVLNSIIKAMVPLLHIALL274
CACNA1AF-----------------DLRTLRAVRVLR>P<LKLVSGIPSLQVVLKSIMKAMIPLLQIGLL232
CACNA1BF-----------------DLRTLRAVRVLR>P<LKLVSGIPSLQVVLKSIMKAMVPLLQIGLL229
CACNA1DLTKETEGGNHSSGKSGGFDVKALRAFRVLR>P<LRLVSGVPSLQVVLNSIIKAMVPLLHIALL277
CACNA1EFN-------------THVDLRTLRAVRVLR>P<LKLVSGIPSLQIVLKSIMKAMVPLLQIGLL227
CACNA1FGPGRPGDAPHTGGKPGGFDVKALRAFRVLR>P<LRLVSGVPSLHIVLNSIMKALVPLLHIALL243
CACNA1GQ---------------NVSFSAVRTVRVLR>P<LRAINRVPSMRILVTLLLDTLPMLGNVLLL217
CACNA1HH---------------NVSLSAIRTVRVLR>P<LRAINRVPSMRILVTLLLDTLPMLGNVLLL236
CACNA1IQ---------------NINLSAIRTVRVLR>P<LKAINRVPSMRILVNLLLDTLPMLGNVLLL215
CACNA1SVNVIQSHTAPMSSKGAGLDVKALRAFRVLR>P<LRLVSGVPSLQVVLNSIFKAMLPLFHIALL202
SCN10AR-----------------GISGLRTFRVLR>A<LKTVSVIPGLKVIVGALIHSVKKLADVTIL252
SCN11AT----------------IKLLPLRTFRVFR>A<LKAISVVSRLKVIVGALLRSVKKLVNVIIL259
SCN1AG-----------------NVSALRTFRVLR>A<LKTISVIPGLKTIVGALIQSVKKLSDVMIL253
SCN2AG-----------------NVSALRTFRVLR>A<LKTISVIPGLKTIVGALIQSVKKLSDVMIL254
SCN3AG-----------------NVSALRTFRVLR>A<LKTISVIPGLKTIVGALIQSVKKLSDVMIL253
SCN4AG-----------------NISALRTFRVLR>A<LKTITVIPGLKTIVGALIQSVKKLSDVMIL256
SCN5AG-----------------NLSALRTFRVLR>A<LKTISVIPGLKTIVGALIQSVKKLADVMVL256
SCN7AD-----------------FIPTLQTARTLR>I<LKIIPLNQGLKSLVGVLIHCLKQLIGVIIL243
SCN8AG-----------------NVSALRTFRVLR>A<LKTISVIPGLKTIVGALIQSVKKLSDVMIL257
SCN9AG-----------------NVSALRTFRVLR>A<LKTISVIPGLKTIVGALIQSVKKLSDVMIL251
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 244 for CACNA1C.