Paralogue Annotation for CACNA1C residue 1343

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1343
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1343

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1653EDravet syndrome B ?Medium9 21248271

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.



CACNA1CNAEENSRISITFFRLFRV---MRLVKLLSR>G<EGIRTLLWTFIKSFQALPYVALLIVMLFFI1373
CACNA1A------FINLSFLRLFRA---ARLIKLLRQ>G<YTIRILLWTFVQSFKALPYVCLLIAMLFFI1705
CACNA1B----NNFINLSFLRLFRA---ARLIKLLRQ>G<YTIRILLWTFVQSFKALPYVCLLIAMLFFI1613
CACNA1DNSEESNRISITFFRLFRV---MRLVKLLSR>G<EGIRTLLWTFIKSFQALPYVALLIAMLFFI1383
CACNA1E---NTSGFNMSFLKLFRA---ARLIKLLRQ>G<YTIRILLWTFVQSFKALPYVCLLIAMLFFI1620
CACNA1FSSEDSSRISITFFRLFRV---MRLVKLLSK>G<EGIRTLLWTFIKSFQALPYVALLIAMIFFI1340
CACNA1G---ASLPINPTIIRIMRVLRIARVLKLLKM>A<VGMRALLDTVMQALPQVGNLGLLFMLLFFI1756
CACNA1H---AALPINPTIIRIMRVLRIARVLKLLKM>A<TGMRALLDTVVQALPQVGNLGLLFMLLFFI1762
CACNA1I---AALPINPTIIRIMRVLRIARVLKLLKM>A<TGMRALLDTVVQALPQVGNLGLLFMLLFFI1632
CACNA1SDPDESARISSAFFRLFRV---MRLIKLLSR>A<EGVRTLLWTFIKSFQALPYVALLIVMLFFI1280
SCN10A---LQSYFSPTLFRVIRLARIGRILRLIRA>A<KGIRTLLFALMMSLPALFNIGLLLFLVMFI1620
SCN11A---EHIPFPPTLFRIVRLARIGRILRLVRA>A<RGIRTLLFALMMSLPSLFNIGLLLFLIMFI1510
SCN1A----KYFVSPTLFRVIRLARIGRILRLIKG>A<KGIRTLLFALMMSLPALFNIGLLLFLVMFI1683
SCN2A----KYFVSPTLFRVIRLARIGRILRLIKG>A<KGIRTLLFALMMSLPALFNIGLLLFLVMFI1673
SCN3A----KYFVSPTLFRVIRLARIGRILRLIKG>A<KGIRTLLFALMMSLPALFNIGLLLFLVMFI1668
SCN4A----KYFVSPTLFRVIRLARIGRVLRLIRG>A<KGIRTLLFALMMSLPALFNIGLLLFLVMFI1495
SCN5A----KYFFSPTLFRVIRLARIGRILRLIRG>A<KGIRTLLFALMMSLPALFNIGLLLFLVMFI1670
SCN7A----SYLVPPSLVQLILLSRIIHMLRLGKG>P<KVFHNLMLPLMLSLPALLNIILLIFLVMFI1393
SCN8A----KYFVSPTLFRVIRLARIGRILRLIKG>A<KGIRTLLFALMMSLPALFNIGLLLFLVMFI1664
SCN9A----TYFVSPTLFRVIRLARIGRILRLVKG>A<KGIRTLLFALMMSLPALFNIGLLLFLVMFI1646
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1343 for CACNA1C.