Paralogue Annotation for CACNA1C residue 270

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 270
Reference Amino Acid: H - Histidine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 270

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD249EDravet syndromeMedium9 24679980

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.



CACNA1CRVLRPLRLVSGVPSLQVVLNSIIKAMVPLL>H<IALLVLFVIIIYAIIGLELFMGKMHKTCYN300
CACNA1ARVLRPLKLVSGIPSLQVVLKSIMKAMIPLL>Q<IGLLLFFAILIFAIIGLEFYMGKFHTTCFE258
CACNA1BRVLRPLKLVSGIPSLQVVLKSIMKAMVPLL>Q<IGLLLFFAILMFAIIGLEFYMGKFHKACFP255
CACNA1DRVLRPLRLVSGVPSLQVVLNSIIKAMVPLL>H<IALLVLFVIIIYAIIGLELFIGKMHKTCFF303
CACNA1ERVLRPLKLVSGIPSLQIVLKSIMKAMVPLL>Q<IGLLLFFAILMFAIIGLEFYSGKLHRACFM253
CACNA1FRVLRPLRLVSGVPSLHIVLNSIMKALVPLL>H<IALLVLFVIIIYAIIGLELFLGRMHKTCYF269
CACNA1GRVLRPLRAINRVPSMRILVTLLLDTLPMLG>N<VLLLCFFVFFIFGIVGVQLWAGLLRNRCFL243
CACNA1HRVLRPLRAINRVPSMRILVTLLLDTLPMLG>N<VLLLCFFVFFIFGIVGVQLWAGLLRNRCFL262
CACNA1IRVLRPLKAINRVPSMRILVNLLLDTLPMLG>N<VLLLCFFVFFIFGIIGVQLWAGLLRNRCFL241
CACNA1SRVLRPLRLVSGVPSLQVVLNSIFKAMLPLF>H<IALLVLFMVIIYAIIGLELFKGKMHKTCYF228
SCN10ARVLRALKTVSVIPGLKVIVGALIHSVKKLA>D<VTILTIFCLSVFALVGLQLFKGNLKNKCVK278
SCN11ARVFRALKAISVVSRLKVIVGALLRSVKKLV>N<VIILTFFCLSIFALVGQQLFMGSLNLKCIS285
SCN1ARVLRALKTISVIPGLKTIVGALIQSVKKLS>D<VMILTVFCLSVFALIGLQLFMGNLRNKCIQ279
SCN2ARVLRALKTISVIPGLKTIVGALIQSVKKLS>D<VMILTVFCLSVFALIGLQLFMGNLRNKCLQ280
SCN3ARVLRALKTISVIPGLKTIVGALIQSVKKLS>D<VMILTVFCLSVFALIGLQLFMGNLRNKCLQ279
SCN4ARVLRALKTITVIPGLKTIVGALIQSVKKLS>D<VMILTVFCLSVFALVGLQLFMGNLRQKCVR282
SCN5ARVLRALKTISVIPGLKTIVGALIQSVKKLA>D<VMVLTVFCLSVFALIGLQLFMGNLRHKCVR282
SCN7ARTLRILKIIPLNQGLKSLVGVLIHCLKQLI>G<VIILTLFFLSIFSLIGMGLFMGNLKHKCFR269
SCN8ARVLRALKTISVIPGLKTIVGALIQSVKKLS>D<VMILTVFCLSVFALIGLQLFMGNLRNKCVV283
SCN9ARVLRALKTISVIPGLKTIVGALIQSVKKLS>D<VMILTVFCLSVFALIGLQLFMGNLKHKCFR277
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 270 for CACNA1C.