Paralogue Annotation for CACNA1C residue 268

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 268
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 268

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AL250PIsolated eyelid closure myotoniaHigh9 19876661
SCN9AL245VErythermalgia, primaryHigh9 25995458, 25995458

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.



CACNA1CAFRVLRPLRLVSGVPSLQVVLNSIIKAMVP>L<LHIALLVLFVIIIYAIIGLELFMGKMHKTC298
CACNA1AAVRVLRPLKLVSGIPSLQVVLKSIMKAMIP>L<LQIGLLLFFAILIFAIIGLEFYMGKFHTTC256
CACNA1BAVRVLRPLKLVSGIPSLQVVLKSIMKAMVP>L<LQIGLLLFFAILMFAIIGLEFYMGKFHKAC253
CACNA1DAFRVLRPLRLVSGVPSLQVVLNSIIKAMVP>L<LHIALLVLFVIIIYAIIGLELFIGKMHKTC301
CACNA1EAVRVLRPLKLVSGIPSLQIVLKSIMKAMVP>L<LQIGLLLFFAILMFAIIGLEFYSGKLHRAC251
CACNA1FAFRVLRPLRLVSGVPSLHIVLNSIMKALVP>L<LHIALLVLFVIIIYAIIGLELFLGRMHKTC267
CACNA1GTVRVLRPLRAINRVPSMRILVTLLLDTLPM>L<GNVLLLCFFVFFIFGIVGVQLWAGLLRNRC241
CACNA1HTVRVLRPLRAINRVPSMRILVTLLLDTLPM>L<GNVLLLCFFVFFIFGIVGVQLWAGLLRNRC260
CACNA1ITVRVLRPLKAINRVPSMRILVNLLLDTLPM>L<GNVLLLCFFVFFIFGIIGVQLWAGLLRNRC239
CACNA1SAFRVLRPLRLVSGVPSLQVVLNSIFKAMLP>L<FHIALLVLFMVIIYAIIGLELFKGKMHKTC226
SCN10ATFRVLRALKTVSVIPGLKVIVGALIHSVKK>L<ADVTILTIFCLSVFALVGLQLFKGNLKNKC276
SCN11ATFRVFRALKAISVVSRLKVIVGALLRSVKK>L<VNVIILTFFCLSIFALVGQQLFMGSLNLKC283
SCN1ATFRVLRALKTISVIPGLKTIVGALIQSVKK>L<SDVMILTVFCLSVFALIGLQLFMGNLRNKC277
SCN2ATFRVLRALKTISVIPGLKTIVGALIQSVKK>L<SDVMILTVFCLSVFALIGLQLFMGNLRNKC278
SCN3ATFRVLRALKTISVIPGLKTIVGALIQSVKK>L<SDVMILTVFCLSVFALIGLQLFMGNLRNKC277
SCN4ATFRVLRALKTITVIPGLKTIVGALIQSVKK>L<SDVMILTVFCLSVFALVGLQLFMGNLRQKC280
SCN5ATFRVLRALKTISVIPGLKTIVGALIQSVKK>L<ADVMVLTVFCLSVFALIGLQLFMGNLRHKC280
SCN7ATARTLRILKIIPLNQGLKSLVGVLIHCLKQ>L<IGVIILTLFFLSIFSLIGMGLFMGNLKHKC267
SCN8ATFRVLRALKTISVIPGLKTIVGALIQSVKK>L<SDVMILTVFCLSVFALIGLQLFMGNLRNKC281
SCN9ATFRVLRALKTISVIPGLKTIVGALIQSVKK>L<SDVMILTVFCLSVFALIGLQLFMGNLKHKC275
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 268 for CACNA1C.