Paralogue Annotation for CACNA1C residue 1395

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1395
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1395

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AD1690NBrugada syndromeMedium9 23085483, 27108952
SCN1AD1703VDravet 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.



CACNA1CIYAVIGMQVFGKIALND---TTE-----IN>R<NNNFQTFPQAVLLLFRCATGEAWQDIMLAC1425
CACNA1AIYAIIGMQVFGNIGIDVEDEDSDEDEFQIT>E<HNNFRTFFQALMLLFRSATGEAWHNIMLSC1765
CACNA1BIYAIIGMQVFGNIALDD---DTS-----IN>R<HNNFRTFLQALMLLFRSATGEAWHEIMLSC1665
CACNA1DIYAVIGMQMFGKVAMRD---NNQ-----IN>R<NNNFQTFPQAVLLLFRCATGEAWQEIMLAC1435
CACNA1EIYAIIGMQVFGNIKLDE---ESH-----IN>R<HNNFRSFFGSLMLLFRSATGEAWQEIMLSC1672
CACNA1FIYAVIGMQMFGKVALQD---GTQ-----IN>R<NNNFQTFPQAVLLLFRCATGEAWQEIMLAS1392
CACNA1GIFAALGVELFGDLECDET---HP--CEGLG>R<HATFRNFGMAFLTLFRVSTGDNWNGIMKDT1811
CACNA1HIYAALGVELFGRLECSED---NP--CEGLS>R<HATFSNFGMAFLTLFRVSTGDNWNGIMKDT1817
CACNA1IIYAALGVELFGKLVCNDE---NP--CEGMS>R<HATFENFGMAFLTLFQVSTGDNWNGIMKDT1687
CACNA1SIYAVIGMQMFGKIALVD---GTQ-----IN>R<NNNFQTFPQAVLLLFRCATGEAWQEILLAC1332
SCN10AIYSIFGMSSFPHVRW-----EAG-----ID>D<MFNFQTFANSMLCLFQITTSAGWDGLLSPI1670
SCN11AIYAILGMNWFSKVNP-----ESG-----ID>D<IFNFKTFASSMLCLFQISTSAGWDSLLSPM1560
SCN1AIYAIFGMSNFAYVKR-----EVG-----ID>D<MFNFETFGNSMICLFQITTSAGWDGLLAPI1733
SCN2AIYAIFGMSNFAYVKR-----EVG-----ID>D<MFNFETFGNSMICLFQITTSAGWDGLLAPI1723
SCN3AIYAIFGMSNFAYVKK-----EAG-----ID>D<MFNFETFGNSMICLFQITTSAGWDGLLAPI1718
SCN4AIYSIFGMSNFAYVKK-----ESG-----ID>D<MFNFETFGNSIICLFEITTSAGWDGLLNPI1545
SCN5AIYSIFGMANFAYVKW-----EAG-----ID>D<MFNFQTFANSMLCLFQITTSAGWDGLLSPI1720
SCN7AIYAVFGMYNFAYVKK-----EAG-----IN>D<VSNFETFGNSMLCLFQVAIFAGWDGMLDAI1443
SCN8AIFSIFGMSNFAYVKH-----EAG-----ID>D<MFNFETFGNSMICLFQITTSAGWDGLLLPI1714
SCN9AIYAIFGMSNFAYVKK-----EDG-----IN>D<MFNFETFGNSMICLFQITTSAGWDGLLAPI1696
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1395 for CACNA1C.