Paralogue Annotation for CACNA1C residue 248

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 248
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 248

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AI230TCardiac conduction diseaseMedium9 20564468
SCN5AI230VBrugada syndromeMedium9 11901046
SCN1AI227SMyoclonic epilepsy of infancyMedium9 12821740, 17054685, 23195492
SCN1AI227TDravet syndrome C ?Medium9 21248271

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.



CACNA1C-DGANALGGKGAGFDVKALRAFRVLRPLRL>V<SGVPSLQVVLNSIIKAMVPLLHIALLVLFV278
CACNA1A--------------DLRTLRAVRVLRPLKL>V<SGIPSLQVVLKSIMKAMIPLLQIGLLLFFA236
CACNA1B--------------DLRTLRAVRVLRPLKL>V<SGIPSLQVVLKSIMKAMVPLLQIGLLLFFA233
CACNA1DTEGGNHSSGKSGGFDVKALRAFRVLRPLRL>V<SGVPSLQVVLNSIIKAMVPLLHIALLVLFV281
CACNA1E-----------THVDLRTLRAVRVLRPLKL>V<SGIPSLQIVLKSIMKAMVPLLQIGLLLFFA231
CACNA1FPGDAPHTGGKPGGFDVKALRAFRVLRPLRL>V<SGVPSLHIVLNSIMKALVPLLHIALLVLFV247
CACNA1G------------NVSFSAVRTVRVLRPLRA>I<NRVPSMRILVTLLLDTLPMLGNVLLLCFFV221
CACNA1H------------NVSLSAIRTVRVLRPLRA>I<NRVPSMRILVTLLLDTLPMLGNVLLLCFFV240
CACNA1I------------NINLSAIRTVRVLRPLKA>I<NRVPSMRILVNLLLDTLPMLGNVLLLCFFV219
CACNA1SQSHTAPMSSKGAGLDVKALRAFRVLRPLRL>V<SGVPSLQVVLNSIFKAMLPLFHIALLVLFM206
SCN10A--------------GISGLRTFRVLRALKT>V<SVIPGLKVIVGALIHSVKKLADVTILTIFC256
SCN11A-------------IKLLPLRTFRVFRALKA>I<SVVSRLKVIVGALLRSVKKLVNVIILTFFC263
SCN1A--------------NVSALRTFRVLRALKT>I<SVIPGLKTIVGALIQSVKKLSDVMILTVFC257
SCN2A--------------NVSALRTFRVLRALKT>I<SVIPGLKTIVGALIQSVKKLSDVMILTVFC258
SCN3A--------------NVSALRTFRVLRALKT>I<SVIPGLKTIVGALIQSVKKLSDVMILTVFC257
SCN4A--------------NISALRTFRVLRALKT>I<TVIPGLKTIVGALIQSVKKLSDVMILTVFC260
SCN5A--------------NLSALRTFRVLRALKT>I<SVIPGLKTIVGALIQSVKKLADVMVLTVFC260
SCN7A--------------FIPTLQTARTLRILKI>I<PLNQGLKSLVGVLIHCLKQLIGVIILTLFF247
SCN8A--------------NVSALRTFRVLRALKT>I<SVIPGLKTIVGALIQSVKKLSDVMILTVFC261
SCN9A--------------NVSALRTFRVLRALKT>I<SVIPGLKTIVGALIQSVKKLSDVMILTVFC255
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 248 for CACNA1C.