Paralogue Annotation for CACNA1C residue 1390

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1390
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1390

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AD1726NHemiplgic migraine ?Medium6 20837964
SCN5AE1685DSudden cardiac deathMedium6 25447171
SCN5AE1685VSudden cardiac deathMedium6 25447171

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.



CACNA1CVALLIVMLFFIYAVIGMQVFGKIALND--->T<TE-----INRNNNFQTFPQAVLLLFRCATG1415
CACNA1AVCLLIAMLFFIYAIIGMQVFGNIGIDVEDE>D<SDEDEFQITEHNNFRTFFQALMLLFRSATG1755
CACNA1BVCLLIAMLFFIYAIIGMQVFGNIALDD--->D<TS-----INRHNNFRTFLQALMLLFRSATG1655
CACNA1DVALLIAMLFFIYAVIGMQMFGKVAMRD--->N<NQ-----INRNNNFQTFPQAVLLLFRCATG1425
CACNA1EVCLLIAMLFFIYAIIGMQVFGNIKLDE--->E<SH-----INRHNNFRSFFGSLMLLFRSATG1662
CACNA1FVALLIAMIFFIYAVIGMQMFGKVALQD--->G<TQ-----INRNNNFQTFPQAVLLLFRCATG1382
CACNA1GLGLLFMLLFFIFAALGVELFGDLECDET-->-<HP--CEGLGRHATFRNFGMAFLTLFRVSTG1801
CACNA1HLGLLFMLLFFIYAALGVELFGRLECSED-->-<NP--CEGLSRHATFSNFGMAFLTLFRVSTG1807
CACNA1ILGLLFMLLFFIYAALGVELFGKLVCNDE-->-<NP--CEGMSRHATFENFGMAFLTLFQVSTG1677
CACNA1SVALLIVMLFFIYAVIGMQMFGKIALVD--->G<TQ-----INRNNNFQTFPQAVLLLFRCATG1322
SCN10AIGLLLFLVMFIYSIFGMSSFPHVRW----->E<AG-----IDDMFNFQTFANSMLCLFQITTS1660
SCN11AIGLLLFLIMFIYAILGMNWFSKVNP----->E<SG-----IDDIFNFKTFASSMLCLFQISTS1550
SCN1AIGLLLFLVMFIYAIFGMSNFAYVKR----->E<VG-----IDDMFNFETFGNSMICLFQITTS1723
SCN2AIGLLLFLVMFIYAIFGMSNFAYVKR----->E<VG-----IDDMFNFETFGNSMICLFQITTS1713
SCN3AIGLLLFLVMFIYAIFGMSNFAYVKK----->E<AG-----IDDMFNFETFGNSMICLFQITTS1708
SCN4AIGLLLFLVMFIYSIFGMSNFAYVKK----->E<SG-----IDDMFNFETFGNSIICLFEITTS1535
SCN5AIGLLLFLVMFIYSIFGMANFAYVKW----->E<AG-----IDDMFNFQTFANSMLCLFQITTS1710
SCN7AIILLIFLVMFIYAVFGMYNFAYVKK----->E<AG-----INDVSNFETFGNSMLCLFQVAIF1433
SCN8AIGLLLFLVMFIFSIFGMSNFAYVKH----->E<AG-----IDDMFNFETFGNSMICLFQITTS1704
SCN9AIGLLLFLVMFIYAIFGMSNFAYVKK----->E<DG-----INDMFNFETFGNSMICLFQITTS1686
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1390 for CACNA1C.