Paralogue Annotation for CACNA1C residue 1349

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1349
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1349

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL1646RLong QT syndromeHigh9 24363352

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.



CACNA1CRISITFFRLFRV---MRLVKLLSRGEGIRT>L<LWTFIKSFQALPYVALLIVMLFFIYAVIGM1379
CACNA1AFINLSFLRLFRA---ARLIKLLRQGYTIRI>L<LWTFVQSFKALPYVCLLIAMLFFIYAIIGM1711
CACNA1BFINLSFLRLFRA---ARLIKLLRQGYTIRI>L<LWTFVQSFKALPYVCLLIAMLFFIYAIIGM1619
CACNA1DRISITFFRLFRV---MRLVKLLSRGEGIRT>L<LWTFIKSFQALPYVALLIAMLFFIYAVIGM1389
CACNA1EGFNMSFLKLFRA---ARLIKLLRQGYTIRI>L<LWTFVQSFKALPYVCLLIAMLFFIYAIIGM1626
CACNA1FRISITFFRLFRV---MRLVKLLSKGEGIRT>L<LWTFIKSFQALPYVALLIAMIFFIYAVIGM1346
CACNA1GPINPTIIRIMRVLRIARVLKLLKMAVGMRA>L<LDTVMQALPQVGNLGLLFMLLFFIFAALGV1762
CACNA1HPINPTIIRIMRVLRIARVLKLLKMATGMRA>L<LDTVVQALPQVGNLGLLFMLLFFIYAALGV1768
CACNA1IPINPTIIRIMRVLRIARVLKLLKMATGMRA>L<LDTVVQALPQVGNLGLLFMLLFFIYAALGV1638
CACNA1SRISSAFFRLFRV---MRLIKLLSRAEGVRT>L<LWTFIKSFQALPYVALLIVMLFFIYAVIGM1286
SCN10AYFSPTLFRVIRLARIGRILRLIRAAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYSIFGM1626
SCN11APFPPTLFRIVRLARIGRILRLVRAARGIRT>L<LFALMMSLPSLFNIGLLLFLIMFIYAILGM1516
SCN1AFVSPTLFRVIRLARIGRILRLIKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYAIFGM1689
SCN2AFVSPTLFRVIRLARIGRILRLIKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYAIFGM1679
SCN3AFVSPTLFRVIRLARIGRILRLIKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYAIFGM1674
SCN4AFVSPTLFRVIRLARIGRVLRLIRGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYSIFGM1501
SCN5AFFSPTLFRVIRLARIGRILRLIRGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYSIFGM1676
SCN7ALVPPSLVQLILLSRIIHMLRLGKGPKVFHN>L<MLPLMLSLPALLNIILLIFLVMFIYAVFGM1399
SCN8AFVSPTLFRVIRLARIGRILRLIKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIFSIFGM1670
SCN9AFVSPTLFRVIRLARIGRILRLVKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYAIFGM1652
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1349 for CACNA1C.