Paralogue Annotation for CACNA1C residue 254

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 254
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 254

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL233RDravet syndrome C ?High9 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.



CACNA1CLGGKGAGFDVKALRAFRVLRPLRLVSGVPS>L<QVVLNSIIKAMVPLLHIALLVLFVIIIYAI284
CACNA1A--------DLRTLRAVRVLRPLKLVSGIPS>L<QVVLKSIMKAMIPLLQIGLLLFFAILIFAI242
CACNA1B--------DLRTLRAVRVLRPLKLVSGIPS>L<QVVLKSIMKAMVPLLQIGLLLFFAILMFAI239
CACNA1DSSGKSGGFDVKALRAFRVLRPLRLVSGVPS>L<QVVLNSIIKAMVPLLHIALLVLFVIIIYAI287
CACNA1E-----THVDLRTLRAVRVLRPLKLVSGIPS>L<QIVLKSIMKAMVPLLQIGLLLFFAILMFAI237
CACNA1FTGGKPGGFDVKALRAFRVLRPLRLVSGVPS>L<HIVLNSIMKALVPLLHIALLVLFVIIIYAI253
CACNA1G------NVSFSAVRTVRVLRPLRAINRVPS>M<RILVTLLLDTLPMLGNVLLLCFFVFFIFGI227
CACNA1H------NVSLSAIRTVRVLRPLRAINRVPS>M<RILVTLLLDTLPMLGNVLLLCFFVFFIFGI246
CACNA1I------NINLSAIRTVRVLRPLKAINRVPS>M<RILVNLLLDTLPMLGNVLLLCFFVFFIFGI225
CACNA1SMSSKGAGLDVKALRAFRVLRPLRLVSGVPS>L<QVVLNSIFKAMLPLFHIALLVLFMVIIYAI212
SCN10A--------GISGLRTFRVLRALKTVSVIPG>L<KVIVGALIHSVKKLADVTILTIFCLSVFAL262
SCN11A-------IKLLPLRTFRVFRALKAISVVSR>L<KVIVGALLRSVKKLVNVIILTFFCLSIFAL269
SCN1A--------NVSALRTFRVLRALKTISVIPG>L<KTIVGALIQSVKKLSDVMILTVFCLSVFAL263
SCN2A--------NVSALRTFRVLRALKTISVIPG>L<KTIVGALIQSVKKLSDVMILTVFCLSVFAL264
SCN3A--------NVSALRTFRVLRALKTISVIPG>L<KTIVGALIQSVKKLSDVMILTVFCLSVFAL263
SCN4A--------NISALRTFRVLRALKTITVIPG>L<KTIVGALIQSVKKLSDVMILTVFCLSVFAL266
SCN5A--------NLSALRTFRVLRALKTISVIPG>L<KTIVGALIQSVKKLADVMVLTVFCLSVFAL266
SCN7A--------FIPTLQTARTLRILKIIPLNQG>L<KSLVGVLIHCLKQLIGVIILTLFFLSIFSL253
SCN8A--------NVSALRTFRVLRALKTISVIPG>L<KTIVGALIQSVKKLSDVMILTVFCLSVFAL267
SCN9A--------NVSALRTFRVLRALKTISVIPG>L<KTIVGALIQSVKKLSDVMILTVFCLSVFAL261
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 254 for CACNA1C.