Paralogue Annotation for CACNA1C residue 1338

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1338
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1338

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AK1671RHemiplegic migraineHigh9 20837964
SCN1AR1648CMyoclonic epilepsy of infancyMedium9 12083760, 15263074, 23086956
SCN1AR1648HGeneralised epilepsy with febrile seizures plus 2Medium9 10742094, 11118488, 11567038, 12086636, 20100831, 20522430, 14702334, 23311867, 25378155
SCN4AR1460QMyotoniaMedium9 21752396

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.



CACNA1CCSPSMNAEENSRISITFFRLFRV---MRLV>K<LLSRGEGIRTLLWTFIKSFQALPYVALLIV1368
CACNA1A-----------FINLSFLRLFRA---ARLI>K<LLRQGYTIRILLWTFVQSFKALPYVCLLIA1700
CACNA1B---------NNFINLSFLRLFRA---ARLI>K<LLRQGYTIRILLWTFVQSFKALPYVCLLIA1608
CACNA1DTATPGNSEESNRISITFFRLFRV---MRLV>K<LLSRGEGIRTLLWTFIKSFQALPYVALLIA1378
CACNA1E--------NTSGFNMSFLKLFRA---ARLI>K<LLRQGYTIRILLWTFVQSFKALPYVCLLIA1615
CACNA1FE----SSEDSSRISITFFRLFRV---MRLV>K<LLSKGEGIRTLLWTFIKSFQALPYVALLIA1335
CACNA1G--------ASLPINPTIIRIMRVLRIARVL>K<LLKMAVGMRALLDTVMQALPQVGNLGLLFM1751
CACNA1H--------AALPINPTIIRIMRVLRIARVL>K<LLKMATGMRALLDTVVQALPQVGNLGLLFM1757
CACNA1I--------AALPINPTIIRIMRVLRIARVL>K<LLKMATGMRALLDTVVQALPQVGNLGLLFM1627
CACNA1SGCGNVDPDESARISSAFFRLFRV---MRLI>K<LLSRAEGVRTLLWTFIKSFQALPYVALLIV1275
SCN10A--------LQSYFSPTLFRVIRLARIGRIL>R<LIRAAKGIRTLLFALMMSLPALFNIGLLLF1615
SCN11A--------EHIPFPPTLFRIVRLARIGRIL>R<LVRAARGIRTLLFALMMSLPSLFNIGLLLF1505
SCN1A---------KYFVSPTLFRVIRLARIGRIL>R<LIKGAKGIRTLLFALMMSLPALFNIGLLLF1678
SCN2A---------KYFVSPTLFRVIRLARIGRIL>R<LIKGAKGIRTLLFALMMSLPALFNIGLLLF1668
SCN3A---------KYFVSPTLFRVIRLARIGRIL>R<LIKGAKGIRTLLFALMMSLPALFNIGLLLF1663
SCN4A---------KYFVSPTLFRVIRLARIGRVL>R<LIRGAKGIRTLLFALMMSLPALFNIGLLLF1490
SCN5A---------KYFFSPTLFRVIRLARIGRIL>R<LIRGAKGIRTLLFALMMSLPALFNIGLLLF1665
SCN7A---------SYLVPPSLVQLILLSRIIHML>R<LGKGPKVFHNLMLPLMLSLPALLNIILLIF1388
SCN8A---------KYFVSPTLFRVIRLARIGRIL>R<LIKGAKGIRTLLFALMMSLPALFNIGLLLF1659
SCN9A---------TYFVSPTLFRVIRLARIGRIL>R<LVKGAKGIRTLLFALMMSLPALFNIGLLLF1641
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1338 for CACNA1C.