Paralogue Annotation for CACNA1C residue 263

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 263
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 263

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AQ245KLong QT syndromeMedium9 15840476

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.



CACNA1CVKALRAFRVLRPLRLVSGVPSLQVVLNSII>K<AMVPLLHIALLVLFVIIIYAIIGLELFMGK293
CACNA1ALRTLRAVRVLRPLKLVSGIPSLQVVLKSIM>K<AMIPLLQIGLLLFFAILIFAIIGLEFYMGK251
CACNA1BLRTLRAVRVLRPLKLVSGIPSLQVVLKSIM>K<AMVPLLQIGLLLFFAILMFAIIGLEFYMGK248
CACNA1DVKALRAFRVLRPLRLVSGVPSLQVVLNSII>K<AMVPLLHIALLVLFVIIIYAIIGLELFIGK296
CACNA1ELRTLRAVRVLRPLKLVSGIPSLQIVLKSIM>K<AMVPLLQIGLLLFFAILMFAIIGLEFYSGK246
CACNA1FVKALRAFRVLRPLRLVSGVPSLHIVLNSIM>K<ALVPLLHIALLVLFVIIIYAIIGLELFLGR262
CACNA1GFSAVRTVRVLRPLRAINRVPSMRILVTLLL>D<TLPMLGNVLLLCFFVFFIFGIVGVQLWAGL236
CACNA1HLSAIRTVRVLRPLRAINRVPSMRILVTLLL>D<TLPMLGNVLLLCFFVFFIFGIVGVQLWAGL255
CACNA1ILSAIRTVRVLRPLKAINRVPSMRILVNLLL>D<TLPMLGNVLLLCFFVFFIFGIIGVQLWAGL234
CACNA1SVKALRAFRVLRPLRLVSGVPSLQVVLNSIF>K<AMLPLFHIALLVLFMVIIYAIIGLELFKGK221
SCN10AISGLRTFRVLRALKTVSVIPGLKVIVGALI>H<SVKKLADVTILTIFCLSVFALVGLQLFKGN271
SCN11ALLPLRTFRVFRALKAISVVSRLKVIVGALL>R<SVKKLVNVIILTFFCLSIFALVGQQLFMGS278
SCN1AVSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN272
SCN2AVSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN273
SCN3AVSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN272
SCN4AISALRTFRVLRALKTITVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALVGLQLFMGN275
SCN5ALSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLADVMVLTVFCLSVFALIGLQLFMGN275
SCN7AIPTLQTARTLRILKIIPLNQGLKSLVGVLI>H<CLKQLIGVIILTLFFLSIFSLIGMGLFMGN262
SCN8AVSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN276
SCN9AVSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN270
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 263 for CACNA1C.