Paralogue Annotation for CACNA1C residue 1351

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1351
Reference Amino Acid: W - Tryptophan
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1351

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AW1684RHemiplegic migraine with cerebellar signsHigh9 11439943, 22549042
SCN1AF1661SMyoclonic epilepsy of infancyMedium9 12754708, 15263074, 23086956
SCN4AF1473SParamyotonia congenitaMedium9 9300659, 18690054
SCN1AF1661LHemiplegic migraineMedium9 24707016

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.



CACNA1CSITFFRLFRV---MRLVKLLSRGEGIRTLL>W<TFIKSFQALPYVALLIVMLFFIYAVIGMQV1381
CACNA1ANLSFLRLFRA---ARLIKLLRQGYTIRILL>W<TFVQSFKALPYVCLLIAMLFFIYAIIGMQV1713
CACNA1BNLSFLRLFRA---ARLIKLLRQGYTIRILL>W<TFVQSFKALPYVCLLIAMLFFIYAIIGMQV1621
CACNA1DSITFFRLFRV---MRLVKLLSRGEGIRTLL>W<TFIKSFQALPYVALLIAMLFFIYAVIGMQM1391
CACNA1ENMSFLKLFRA---ARLIKLLRQGYTIRILL>W<TFVQSFKALPYVCLLIAMLFFIYAIIGMQV1628
CACNA1FSITFFRLFRV---MRLVKLLSKGEGIRTLL>W<TFIKSFQALPYVALLIAMIFFIYAVIGMQM1348
CACNA1GNPTIIRIMRVLRIARVLKLLKMAVGMRALL>D<TVMQALPQVGNLGLLFMLLFFIFAALGVEL1764
CACNA1HNPTIIRIMRVLRIARVLKLLKMATGMRALL>D<TVVQALPQVGNLGLLFMLLFFIYAALGVEL1770
CACNA1INPTIIRIMRVLRIARVLKLLKMATGMRALL>D<TVVQALPQVGNLGLLFMLLFFIYAALGVEL1640
CACNA1SSSAFFRLFRV---MRLIKLLSRAEGVRTLL>W<TFIKSFQALPYVALLIVMLFFIYAVIGMQM1288
SCN10ASPTLFRVIRLARIGRILRLIRAAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIYSIFGMSS1628
SCN11APPTLFRIVRLARIGRILRLVRAARGIRTLL>F<ALMMSLPSLFNIGLLLFLIMFIYAILGMNW1518
SCN1ASPTLFRVIRLARIGRILRLIKGAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIYAIFGMSN1691
SCN2ASPTLFRVIRLARIGRILRLIKGAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIYAIFGMSN1681
SCN3ASPTLFRVIRLARIGRILRLIKGAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIYAIFGMSN1676
SCN4ASPTLFRVIRLARIGRVLRLIRGAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIYSIFGMSN1503
SCN5ASPTLFRVIRLARIGRILRLIRGAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIYSIFGMAN1678
SCN7APPSLVQLILLSRIIHMLRLGKGPKVFHNLM>L<PLMLSLPALLNIILLIFLVMFIYAVFGMYN1401
SCN8ASPTLFRVIRLARIGRILRLIKGAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIFSIFGMSN1672
SCN9ASPTLFRVIRLARIGRILRLVKGAKGIRTLL>F<ALMMSLPALFNIGLLLFLVMFIYAIFGMSN1654
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1351 for CACNA1C.