Paralogue Annotation for CACNA1C residue 246

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 246
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 246

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1SR174WMalignant hyperthermia ?High9 19825159, 22547813, 23663834
SCN1AK225NDravet syndromeMedium9 24168886

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.



CACNA1CKA-DGANALGGKGAGFDVKALRAFRVLRPL>R<LVSGVPSLQVVLNSIIKAMVPLLHIALLVL276
CACNA1A----------------DLRTLRAVRVLRPL>K<LVSGIPSLQVVLKSIMKAMIPLLQIGLLLF234
CACNA1B----------------DLRTLRAVRVLRPL>K<LVSGIPSLQVVLKSIMKAMVPLLQIGLLLF231
CACNA1DKETEGGNHSSGKSGGFDVKALRAFRVLRPL>R<LVSGVPSLQVVLNSIIKAMVPLLHIALLVL279
CACNA1E-------------THVDLRTLRAVRVLRPL>K<LVSGIPSLQIVLKSIMKAMVPLLQIGLLLF229
CACNA1FGRPGDAPHTGGKPGGFDVKALRAFRVLRPL>R<LVSGVPSLHIVLNSIMKALVPLLHIALLVL245
CACNA1G--------------NVSFSAVRTVRVLRPL>R<AINRVPSMRILVTLLLDTLPMLGNVLLLCF219
CACNA1H--------------NVSLSAIRTVRVLRPL>R<AINRVPSMRILVTLLLDTLPMLGNVLLLCF238
CACNA1I--------------NINLSAIRTVRVLRPL>K<AINRVPSMRILVNLLLDTLPMLGNVLLLCF217
CACNA1SVIQSHTAPMSSKGAGLDVKALRAFRVLRPL>R<LVSGVPSLQVVLNSIFKAMLPLFHIALLVL204
SCN10A----------------GISGLRTFRVLRAL>K<TVSVIPGLKVIVGALIHSVKKLADVTILTI254
SCN11A---------------IKLLPLRTFRVFRAL>K<AISVVSRLKVIVGALLRSVKKLVNVIILTF261
SCN1A----------------NVSALRTFRVLRAL>K<TISVIPGLKTIVGALIQSVKKLSDVMILTV255
SCN2A----------------NVSALRTFRVLRAL>K<TISVIPGLKTIVGALIQSVKKLSDVMILTV256
SCN3A----------------NVSALRTFRVLRAL>K<TISVIPGLKTIVGALIQSVKKLSDVMILTV255
SCN4A----------------NISALRTFRVLRAL>K<TITVIPGLKTIVGALIQSVKKLSDVMILTV258
SCN5A----------------NLSALRTFRVLRAL>K<TISVIPGLKTIVGALIQSVKKLADVMVLTV258
SCN7A----------------FIPTLQTARTLRIL>K<IIPLNQGLKSLVGVLIHCLKQLIGVIILTL245
SCN8A----------------NVSALRTFRVLRAL>K<TISVIPGLKTIVGALIQSVKKLSDVMILTV259
SCN9A----------------NVSALRTFRVLRAL>K<TISVIPGLKTIVGALIQSVKKLSDVMILTV253
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 246 for CACNA1C.