Paralogue Annotation for CACNA1C residue 1399

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1399
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1399

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1707VMyoclonic epilepsy of infancyHigh9 17347258, 22409937

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.



CACNA1CIGMQVFGKIALND---TTE-----INRNNN>F<QTFPQAVLLLFRCATGEAWQDIMLACMPG-1428
CACNA1AIGMQVFGNIGIDVEDEDSDEDEFQITEHNN>F<RTFFQALMLLFRSATGEAWHNIMLSCLSG-1768
CACNA1BIGMQVFGNIALDD---DTS-----INRHNN>F<RTFLQALMLLFRSATGEAWHEIMLSCLSN-1668
CACNA1DIGMQMFGKVAMRD---NNQ-----INRNNN>F<QTFPQAVLLLFRCATGEAWQEIMLACLPG-1438
CACNA1EIGMQVFGNIKLDE---ESH-----INRHNN>F<RSFFGSLMLLFRSATGEAWQEIMLSCLGE-1675
CACNA1FIGMQMFGKVALQD---GTQ-----INRNNN>F<QTFPQAVLLLFRCATGEAWQEIMLASLPG-1395
CACNA1GLGVELFGDLECDET---HP--CEGLGRHAT>F<RNFGMAFLTLFRVSTGDNWNGIMKDTLRD-1814
CACNA1HLGVELFGRLECSED---NP--CEGLSRHAT>F<SNFGMAFLTLFRVSTGDNWNGIMKDTLRE-1820
CACNA1ILGVELFGKLVCNDE---NP--CEGMSRHAT>F<ENFGMAFLTLFQVSTGDNWNGIMKDTLRD-1690
CACNA1SIGMQMFGKIALVD---GTQ-----INRNNN>F<QTFPQAVLLLFRCATGEAWQEILLACSYG-1335
SCN10AFGMSSFPHVRW-----EAG-----IDDMFN>F<QTFANSMLCLFQITTSAGWDGLLSPILNTG1674
SCN11ALGMNWFSKVNP-----ESG-----IDDIFN>F<KTFASSMLCLFQISTSAGWDSLLSPMLRSK1564
SCN1AFGMSNFAYVKR-----EVG-----IDDMFN>F<ETFGNSMICLFQITTSAGWDGLLAPILNSK1737
SCN2AFGMSNFAYVKR-----EVG-----IDDMFN>F<ETFGNSMICLFQITTSAGWDGLLAPILNSG1727
SCN3AFGMSNFAYVKK-----EAG-----IDDMFN>F<ETFGNSMICLFQITTSAGWDGLLAPILNSA1722
SCN4AFGMSNFAYVKK-----ESG-----IDDMFN>F<ETFGNSIICLFEITTSAGWDGLLNPILNSG1549
SCN5AFGMANFAYVKW-----EAG-----IDDMFN>F<QTFANSMLCLFQITTSAGWDGLLSPILNTG1724
SCN7AFGMYNFAYVKK-----EAG-----INDVSN>F<ETFGNSMLCLFQVAIFAGWDGMLDAIFNSK1447
SCN8AFGMSNFAYVKH-----EAG-----IDDMFN>F<ETFGNSMICLFQITTSAGWDGLLLPILN-R1717
SCN9AFGMSNFAYVKK-----EDG-----INDMFN>F<ETFGNSMICLFQITTSAGWDGLLAPILNSK1700
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1399 for CACNA1C.