Paralogue Annotation for CACNA1C residue 240

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 240
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 240

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AR222QCardiomyopathy, dilated ?High9 19412328, 19716085, 22766342, 22710484, 22999724, 24136861, 24815523, 25624448
SCN4AR222WHypokalaemic periodic paralysisHigh9 19118277
SCN11AR225CEpisodic pain syndromeHigh9 24207120
SCN8AR223GEpileptic encephalopathyHigh9 25239001, 25239001
SCN2AR220GEpileptic encephalopathyHigh9 25818041
SCN1AR219GDravet syndromeHigh9 27236449

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.



CACNA1CILEQATKA-DGANALGGKGAGFDVKALRAF>R<VLRPLRLVSGVPSLQVVLNSIIKAMVPLLH270
CACNA1AVGTEF-----------------DLRTLRAV>R<VLRPLKLVSGIPSLQVVLKSIMKAMIPLLQ228
CACNA1BAGTDF-----------------DLRTLRAV>R<VLRPLKLVSGIPSLQVVLKSIMKAMVPLLQ225
CACNA1DILEQLTKETEGGNHSSGKSGGFDVKALRAF>R<VLRPLRLVSGVPSLQVVLNSIIKAMVPLLH273
CACNA1EAGTHFN-------------THVDLRTLRAV>R<VLRPLKLVSGIPSLQIVLKSIMKAMVPLLQ223
CACNA1FLLEQGPGRPGDAPHTGGKPGGFDVKALRAF>R<VLRPLRLVSGVPSLHIVLNSIMKALVPLLH239
CACNA1GSLDLQ---------------NVSFSAVRTV>R<VLRPLRAINRVPSMRILVTLLLDTLPMLGN213
CACNA1HSLDGH---------------NVSLSAIRTV>R<VLRPLRAINRVPSMRILVTLLLDTLPMLGN232
CACNA1ISLDLQ---------------NINLSAIRTV>R<VLRPLKAINRVPSMRILVNLLLDTLPMLGN211
CACNA1SILEQVNVIQSHTAPMSSKGAGLDVKALRAF>R<VLRPLRLVSGVPSLQVVLNSIFKAMLPLFH198
SCN10AAIDLR-----------------GISGLRTF>R<VLRALKTVSVIPGLKVIVGALIHSVKKLAD248
SCN11AIPGIT----------------IKLLPLRTF>R<VFRALKAISVVSRLKVIVGALLRSVKKLVN255
SCN1AFVDLG-----------------NVSALRTF>R<VLRALKTISVIPGLKTIVGALIQSVKKLSD249
SCN2AFVDLG-----------------NVSALRTF>R<VLRALKTISVIPGLKTIVGALIQSVKKLSD250
SCN3AFVDLG-----------------NVSALRTF>R<VLRALKTISVIPGLKTIVGALIQSVKKLSD249
SCN4AFVDLG-----------------NISALRTF>R<VLRALKTITVIPGLKTIVGALIQSVKKLSD252
SCN5ANIKLG-----------------NLSALRTF>R<VLRALKTISVIPGLKTIVGALIQSVKKLAD252
SCN7AYSPLD-----------------FIPTLQTA>R<TLRILKIIPLNQGLKSLVGVLIHCLKQLIG239
SCN8AFVNLG-----------------NVSALRTF>R<VLRALKTISVIPGLKTIVGALIQSVKKLSD253
SCN9AFVNLG-----------------NVSALRTF>R<VLRALKTISVIPGLKTIVGALIQSVKKLSD247
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 240 for CACNA1C.