Paralogue Annotation for CACNA1C residue 1341

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1341
Reference Amino Acid: S - Serine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1341

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AK1641NSeizures, benign infantileMedium9 23360469
SCN10AR1588QAtrial fibrillationMedium9 25691686, 25691686

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.



CACNA1CSMNAEENSRISITFFRLFRV---MRLVKLL>S<RGEGIRTLLWTFIKSFQALPYVALLIVMLF1371
CACNA1A--------FINLSFLRLFRA---ARLIKLL>R<QGYTIRILLWTFVQSFKALPYVCLLIAMLF1703
CACNA1B------NNFINLSFLRLFRA---ARLIKLL>R<QGYTIRILLWTFVQSFKALPYVCLLIAMLF1611
CACNA1DPGNSEESNRISITFFRLFRV---MRLVKLL>S<RGEGIRTLLWTFIKSFQALPYVALLIAMLF1381
CACNA1E-----NTSGFNMSFLKLFRA---ARLIKLL>R<QGYTIRILLWTFVQSFKALPYVCLLIAMLF1618
CACNA1F--SSEDSSRISITFFRLFRV---MRLVKLL>S<KGEGIRTLLWTFIKSFQALPYVALLIAMIF1338
CACNA1G-----ASLPINPTIIRIMRVLRIARVLKLL>K<MAVGMRALLDTVMQALPQVGNLGLLFMLLF1754
CACNA1H-----AALPINPTIIRIMRVLRIARVLKLL>K<MATGMRALLDTVVQALPQVGNLGLLFMLLF1760
CACNA1I-----AALPINPTIIRIMRVLRIARVLKLL>K<MATGMRALLDTVVQALPQVGNLGLLFMLLF1630
CACNA1SNVDPDESARISSAFFRLFRV---MRLIKLL>S<RAEGVRTLLWTFIKSFQALPYVALLIVMLF1278
SCN10A-----LQSYFSPTLFRVIRLARIGRILRLI>R<AAKGIRTLLFALMMSLPALFNIGLLLFLVM1618
SCN11A-----EHIPFPPTLFRIVRLARIGRILRLV>R<AARGIRTLLFALMMSLPSLFNIGLLLFLIM1508
SCN1A------KYFVSPTLFRVIRLARIGRILRLI>K<GAKGIRTLLFALMMSLPALFNIGLLLFLVM1681
SCN2A------KYFVSPTLFRVIRLARIGRILRLI>K<GAKGIRTLLFALMMSLPALFNIGLLLFLVM1671
SCN3A------KYFVSPTLFRVIRLARIGRILRLI>K<GAKGIRTLLFALMMSLPALFNIGLLLFLVM1666
SCN4A------KYFVSPTLFRVIRLARIGRVLRLI>R<GAKGIRTLLFALMMSLPALFNIGLLLFLVM1493
SCN5A------KYFFSPTLFRVIRLARIGRILRLI>R<GAKGIRTLLFALMMSLPALFNIGLLLFLVM1668
SCN7A------SYLVPPSLVQLILLSRIIHMLRLG>K<GPKVFHNLMLPLMLSLPALLNIILLIFLVM1391
SCN8A------KYFVSPTLFRVIRLARIGRILRLI>K<GAKGIRTLLFALMMSLPALFNIGLLLFLVM1662
SCN9A------TYFVSPTLFRVIRLARIGRILRLV>K<GAKGIRTLLFALMMSLPALFNIGLLLFLVM1644
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1341 for CACNA1C.