Paralogue Annotation for CACNA1C residue 1331

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1331
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1331

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1638TDravet syndrome C ?Medium6 21248271
SCN1AI1638NMyoclonic epilepsy of infancyMedium6 23195492

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.



CACNA1C---HTQ----CSPSMNAEENSRISITFFRL>F<RV---MRLVKLLSRGEGIRTLLWTFIKSFQ1358
CACNA1A---------------------FINLSFLRL>F<RA---ARLIKLLRQGYTIRILLWTFVQSFK1690
CACNA1B-------------------NNFINLSFLRL>F<RA---ARLIKLLRQGYTIRILLWTFVQSFK1598
CACNA1D---SENVPVPTATPGNSEESNRISITFFRL>F<RV---MRLVKLLSRGEGIRTLLWTFIKSFQ1368
CACNA1E------------------NTSGFNMSFLKL>F<RA---ARLIKLLRQGYTIRILLWTFVQSFK1605
CACNA1F---HLG----E----SSEDSSRISITFFRL>F<RV---MRLVKLLSKGEGIRTLLWTFIKSFQ1325
CACNA1G------------------ASLPINPTIIRI>M<RVLRIARVLKLLKMAVGMRALLDTVMQALP1741
CACNA1H------------------AALPINPTIIRI>M<RVLRIARVLKLLKMATGMRALLDTVVQALP1747
CACNA1I------------------AALPINPTIIRI>M<RVLRIARVLKLLKMATGMRALLDTVVQALP1617
CACNA1SSSGGLYCLGGGCGNVDPDESARISSAFFRL>F<RV---MRLIKLLSRAEGVRTLLWTFIKSFQ1265
SCN10A------------------LQSYFSPTLFRV>I<RLARIGRILRLIRAAKGIRTLLFALMMSLP1605
SCN11A------------------EHIPFPPTLFRI>V<RLARIGRILRLVRAARGIRTLLFALMMSLP1495
SCN1A-------------------KYFVSPTLFRV>I<RLARIGRILRLIKGAKGIRTLLFALMMSLP1668
SCN2A-------------------KYFVSPTLFRV>I<RLARIGRILRLIKGAKGIRTLLFALMMSLP1658
SCN3A-------------------KYFVSPTLFRV>I<RLARIGRILRLIKGAKGIRTLLFALMMSLP1653
SCN4A-------------------KYFVSPTLFRV>I<RLARIGRVLRLIRGAKGIRTLLFALMMSLP1480
SCN5A-------------------KYFFSPTLFRV>I<RLARIGRILRLIRGAKGIRTLLFALMMSLP1655
SCN7A-------------------SYLVPPSLVQL>I<LLSRIIHMLRLGKGPKVFHNLMLPLMLSLP1378
SCN8A-------------------KYFVSPTLFRV>I<RLARIGRILRLIKGAKGIRTLLFALMMSLP1649
SCN9A-------------------TYFVSPTLFRV>I<RLARIGRILRLVKGAKGIRTLLFALMMSLP1631
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1331 for CACNA1C.