Paralogue Annotation for CACNA1C residue 1357

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1357
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1357

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1667PDravet syndrome C ?Medium9 21248271, 23195492

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.



CACNA1CLFRV---MRLVKLLSRGEGIRTLLWTFIKS>F<QALPYVALLIVMLFFIYAVIGMQVFGKIAL1387
CACNA1ALFRA---ARLIKLLRQGYTIRILLWTFVQS>F<KALPYVCLLIAMLFFIYAIIGMQVFGNIGI1719
CACNA1BLFRA---ARLIKLLRQGYTIRILLWTFVQS>F<KALPYVCLLIAMLFFIYAIIGMQVFGNIAL1627
CACNA1DLFRV---MRLVKLLSRGEGIRTLLWTFIKS>F<QALPYVALLIAMLFFIYAVIGMQMFGKVAM1397
CACNA1ELFRA---ARLIKLLRQGYTIRILLWTFVQS>F<KALPYVCLLIAMLFFIYAIIGMQVFGNIKL1634
CACNA1FLFRV---MRLVKLLSKGEGIRTLLWTFIKS>F<QALPYVALLIAMIFFIYAVIGMQMFGKVAL1354
CACNA1GIMRVLRIARVLKLLKMAVGMRALLDTVMQA>L<PQVGNLGLLFMLLFFIFAALGVELFGDLEC1770
CACNA1HIMRVLRIARVLKLLKMATGMRALLDTVVQA>L<PQVGNLGLLFMLLFFIYAALGVELFGRLEC1776
CACNA1IIMRVLRIARVLKLLKMATGMRALLDTVVQA>L<PQVGNLGLLFMLLFFIYAALGVELFGKLVC1646
CACNA1SLFRV---MRLIKLLSRAEGVRTLLWTFIKS>F<QALPYVALLIVMLFFIYAVIGMQMFGKIAL1294
SCN10AVIRLARIGRILRLIRAAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIYSIFGMSSFPHVRW1634
SCN11AIVRLARIGRILRLVRAARGIRTLLFALMMS>L<PSLFNIGLLLFLIMFIYAILGMNWFSKVNP1524
SCN1AVIRLARIGRILRLIKGAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIYAIFGMSNFAYVKR1697
SCN2AVIRLARIGRILRLIKGAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIYAIFGMSNFAYVKR1687
SCN3AVIRLARIGRILRLIKGAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIYAIFGMSNFAYVKK1682
SCN4AVIRLARIGRVLRLIRGAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIYSIFGMSNFAYVKK1509
SCN5AVIRLARIGRILRLIRGAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIYSIFGMANFAYVKW1684
SCN7ALILLSRIIHMLRLGKGPKVFHNLMLPLMLS>L<PALLNIILLIFLVMFIYAVFGMYNFAYVKK1407
SCN8AVIRLARIGRILRLIKGAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIFSIFGMSNFAYVKH1678
SCN9AVIRLARIGRILRLVKGAKGIRTLLFALMMS>L<PALFNIGLLLFLVMFIYAIFGMSNFAYVKK1660
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1357 for CACNA1C.