Paralogue Annotation for CACNA1C residue 273

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 273
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 273

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI252NMyoclonic epilepsy of infancyMedium9 15087100
SCN1AI252MIntractable epilepsyMedium9 23195492

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.



CACNA1CRPLRLVSGVPSLQVVLNSIIKAMVPLLHIA>L<LVLFVIIIYAIIGLELFMGKMHKTCYNQEG303
CACNA1ARPLKLVSGIPSLQVVLKSIMKAMIPLLQIG>L<LLFFAILIFAIIGLEFYMGKFHTTCFE-E-259
CACNA1BRPLKLVSGIPSLQVVLKSIMKAMVPLLQIG>L<LLFFAILMFAIIGLEFYMGKFHKACFP-N-256
CACNA1DRPLRLVSGVPSLQVVLNSIIKAMVPLLHIA>L<LVLFVIIIYAIIGLELFIGKMHKTCFF-A-304
CACNA1ERPLKLVSGIPSLQIVLKSIMKAMVPLLQIG>L<LLFFAILMFAIIGLEFYSGKLHRACFM-N-254
CACNA1FRPLRLVSGVPSLHIVLNSIMKALVPLLHIA>L<LVLFVIIIYAIIGLELFLGRMHKTCYF-L-270
CACNA1GRPLRAINRVPSMRILVTLLLDTLPMLGNVL>L<LCFFVFFIFGIVGVQLWAGLLRNRCFL-P-244
CACNA1HRPLRAINRVPSMRILVTLLLDTLPMLGNVL>L<LCFFVFFIFGIVGVQLWAGLLRNRCFL-D-263
CACNA1IRPLKAINRVPSMRILVNLLLDTLPMLGNVL>L<LCFFVFFIFGIIGVQLWAGLLRNRCFL-E-242
CACNA1SRPLRLVSGVPSLQVVLNSIFKAMLPLFHIA>L<LVLFMVIIYAIIGLELFKGKMHKTCYF-I-229
SCN10ARALKTVSVIPGLKVIVGALIHSVKKLADVT>I<LTIFCLSVFALVGLQLFKGNLKNKCVK-N-279
SCN11ARALKAISVVSRLKVIVGALLRSVKKLVNVI>I<LTFFCLSIFALVGQQLFMGSLNLKCIS-R-286
SCN1ARALKTISVIPGLKTIVGALIQSVKKLSDVM>I<LTVFCLSVFALIGLQLFMGNLRNKCIQ-WP281
SCN2ARALKTISVIPGLKTIVGALIQSVKKLSDVM>I<LTVFCLSVFALIGLQLFMGNLRNKCLQ-WP282
SCN3ARALKTISVIPGLKTIVGALIQSVKKLSDVM>I<LTVFCLSVFALIGLQLFMGNLRNKCLQ-WP281
SCN4ARALKTITVIPGLKTIVGALIQSVKKLSDVM>I<LTVFCLSVFALVGLQLFMGNLRQKCVR-WP284
SCN5ARALKTISVIPGLKTIVGALIQSVKKLADVM>V<LTVFCLSVFALIGLQLFMGNLRHKCVR---282
SCN7ARILKIIPLNQGLKSLVGVLIHCLKQLIGVI>I<LTLFFLSIFSLIGMGLFMGNLKHKCFR-WP271
SCN8ARALKTISVIPGLKTIVGALIQSVKKLSDVM>I<LTVFCLSVFALIGLQLFMGNLRNKCVV-WP285
SCN9ARALKTISVIPGLKTIVGALIQSVKKLSDVM>I<LTVFCLSVFALIGLQLFMGNLKHKCFR-NS279
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 273 for CACNA1C.