Paralogue Annotation for CACNA1C residue 1348

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1348
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1348

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AT1645MLong QT syndromeHigh9 10508990
SCN1AT1658RMyoclonic epilepsy of infancyHigh9 17561957
SCN1AT1658MDravet syndromeHigh9 18930999, 20522430

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.



CACNA1CSRISITFFRLFRV---MRLVKLLSRGEGIR>T<LLWTFIKSFQALPYVALLIVMLFFIYAVIG1378
CACNA1A-FINLSFLRLFRA---ARLIKLLRQGYTIR>I<LLWTFVQSFKALPYVCLLIAMLFFIYAIIG1710
CACNA1BNFINLSFLRLFRA---ARLIKLLRQGYTIR>I<LLWTFVQSFKALPYVCLLIAMLFFIYAIIG1618
CACNA1DNRISITFFRLFRV---MRLVKLLSRGEGIR>T<LLWTFIKSFQALPYVALLIAMLFFIYAVIG1388
CACNA1ESGFNMSFLKLFRA---ARLIKLLRQGYTIR>I<LLWTFVQSFKALPYVCLLIAMLFFIYAIIG1625
CACNA1FSRISITFFRLFRV---MRLVKLLSKGEGIR>T<LLWTFIKSFQALPYVALLIAMIFFIYAVIG1345
CACNA1GLPINPTIIRIMRVLRIARVLKLLKMAVGMR>A<LLDTVMQALPQVGNLGLLFMLLFFIFAALG1761
CACNA1HLPINPTIIRIMRVLRIARVLKLLKMATGMR>A<LLDTVVQALPQVGNLGLLFMLLFFIYAALG1767
CACNA1ILPINPTIIRIMRVLRIARVLKLLKMATGMR>A<LLDTVVQALPQVGNLGLLFMLLFFIYAALG1637
CACNA1SARISSAFFRLFRV---MRLIKLLSRAEGVR>T<LLWTFIKSFQALPYVALLIVMLFFIYAVIG1285
SCN10ASYFSPTLFRVIRLARIGRILRLIRAAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIYSIFG1625
SCN11AIPFPPTLFRIVRLARIGRILRLVRAARGIR>T<LLFALMMSLPSLFNIGLLLFLIMFIYAILG1515
SCN1AYFVSPTLFRVIRLARIGRILRLIKGAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIYAIFG1688
SCN2AYFVSPTLFRVIRLARIGRILRLIKGAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIYAIFG1678
SCN3AYFVSPTLFRVIRLARIGRILRLIKGAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIYAIFG1673
SCN4AYFVSPTLFRVIRLARIGRVLRLIRGAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIYSIFG1500
SCN5AYFFSPTLFRVIRLARIGRILRLIRGAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIYSIFG1675
SCN7AYLVPPSLVQLILLSRIIHMLRLGKGPKVFH>N<LMLPLMLSLPALLNIILLIFLVMFIYAVFG1398
SCN8AYFVSPTLFRVIRLARIGRILRLIKGAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIFSIFG1669
SCN9AYFVSPTLFRVIRLARIGRILRLVKGAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIYAIFG1651
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1348 for CACNA1C.