Paralogue Annotation for CACNA1C residue 265

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 265
Reference Amino Acid: M - Methionine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 265

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV247LLong QT syndromeMedium9 19716085

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.



CACNA1CALRAFRVLRPLRLVSGVPSLQVVLNSIIKA>M<VPLLHIALLVLFVIIIYAIIGLELFMGKMH295
CACNA1ATLRAVRVLRPLKLVSGIPSLQVVLKSIMKA>M<IPLLQIGLLLFFAILIFAIIGLEFYMGKFH253
CACNA1BTLRAVRVLRPLKLVSGIPSLQVVLKSIMKA>M<VPLLQIGLLLFFAILMFAIIGLEFYMGKFH250
CACNA1DALRAFRVLRPLRLVSGVPSLQVVLNSIIKA>M<VPLLHIALLVLFVIIIYAIIGLELFIGKMH298
CACNA1ETLRAVRVLRPLKLVSGIPSLQIVLKSIMKA>M<VPLLQIGLLLFFAILMFAIIGLEFYSGKLH248
CACNA1FALRAFRVLRPLRLVSGVPSLHIVLNSIMKA>L<VPLLHIALLVLFVIIIYAIIGLELFLGRMH264
CACNA1GAVRTVRVLRPLRAINRVPSMRILVTLLLDT>L<PMLGNVLLLCFFVFFIFGIVGVQLWAGLLR238
CACNA1HAIRTVRVLRPLRAINRVPSMRILVTLLLDT>L<PMLGNVLLLCFFVFFIFGIVGVQLWAGLLR257
CACNA1IAIRTVRVLRPLKAINRVPSMRILVNLLLDT>L<PMLGNVLLLCFFVFFIFGIIGVQLWAGLLR236
CACNA1SALRAFRVLRPLRLVSGVPSLQVVLNSIFKA>M<LPLFHIALLVLFMVIIYAIIGLELFKGKMH223
SCN10AGLRTFRVLRALKTVSVIPGLKVIVGALIHS>V<KKLADVTILTIFCLSVFALVGLQLFKGNLK273
SCN11APLRTFRVFRALKAISVVSRLKVIVGALLRS>V<KKLVNVIILTFFCLSIFALVGQQLFMGSLN280
SCN1AALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLR274
SCN2AALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLR275
SCN3AALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLR274
SCN4AALRTFRVLRALKTITVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALVGLQLFMGNLR277
SCN5AALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLADVMVLTVFCLSVFALIGLQLFMGNLR277
SCN7ATLQTARTLRILKIIPLNQGLKSLVGVLIHC>L<KQLIGVIILTLFFLSIFSLIGMGLFMGNLK264
SCN8AALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLR278
SCN9AALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLK272
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 265 for CACNA1C.