Paralogue Annotation for CACNA1C residue 1339

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1339
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1339

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1649QHemiplegic migraineHigh9 17397047, 18621678, 24101488
SCN4AL1461PMyotoniaHigh9 22094069
SCN9AL1612PParoxysmal extreme pain disorderHigh9 25285947, 25285947

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.



CACNA1CSPSMNAEENSRISITFFRLFRV---MRLVK>L<LSRGEGIRTLLWTFIKSFQALPYVALLIVM1369
CACNA1A----------FINLSFLRLFRA---ARLIK>L<LRQGYTIRILLWTFVQSFKALPYVCLLIAM1701
CACNA1B--------NNFINLSFLRLFRA---ARLIK>L<LRQGYTIRILLWTFVQSFKALPYVCLLIAM1609
CACNA1DATPGNSEESNRISITFFRLFRV---MRLVK>L<LSRGEGIRTLLWTFIKSFQALPYVALLIAM1379
CACNA1E-------NTSGFNMSFLKLFRA---ARLIK>L<LRQGYTIRILLWTFVQSFKALPYVCLLIAM1616
CACNA1F----SSEDSSRISITFFRLFRV---MRLVK>L<LSKGEGIRTLLWTFIKSFQALPYVALLIAM1336
CACNA1G-------ASLPINPTIIRIMRVLRIARVLK>L<LKMAVGMRALLDTVMQALPQVGNLGLLFML1752
CACNA1H-------AALPINPTIIRIMRVLRIARVLK>L<LKMATGMRALLDTVVQALPQVGNLGLLFML1758
CACNA1I-------AALPINPTIIRIMRVLRIARVLK>L<LKMATGMRALLDTVVQALPQVGNLGLLFML1628
CACNA1SCGNVDPDESARISSAFFRLFRV---MRLIK>L<LSRAEGVRTLLWTFIKSFQALPYVALLIVM1276
SCN10A-------LQSYFSPTLFRVIRLARIGRILR>L<IRAAKGIRTLLFALMMSLPALFNIGLLLFL1616
SCN11A-------EHIPFPPTLFRIVRLARIGRILR>L<VRAARGIRTLLFALMMSLPSLFNIGLLLFL1506
SCN1A--------KYFVSPTLFRVIRLARIGRILR>L<IKGAKGIRTLLFALMMSLPALFNIGLLLFL1679
SCN2A--------KYFVSPTLFRVIRLARIGRILR>L<IKGAKGIRTLLFALMMSLPALFNIGLLLFL1669
SCN3A--------KYFVSPTLFRVIRLARIGRILR>L<IKGAKGIRTLLFALMMSLPALFNIGLLLFL1664
SCN4A--------KYFVSPTLFRVIRLARIGRVLR>L<IRGAKGIRTLLFALMMSLPALFNIGLLLFL1491
SCN5A--------KYFFSPTLFRVIRLARIGRILR>L<IRGAKGIRTLLFALMMSLPALFNIGLLLFL1666
SCN7A--------SYLVPPSLVQLILLSRIIHMLR>L<GKGPKVFHNLMLPLMLSLPALLNIILLIFL1389
SCN8A--------KYFVSPTLFRVIRLARIGRILR>L<IKGAKGIRTLLFALMMSLPALFNIGLLLFL1660
SCN9A--------TYFVSPTLFRVIRLARIGRILR>L<VKGAKGIRTLLFALMMSLPALFNIGLLLFL1642
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1339 for CACNA1C.