Paralogue Annotation for CACNA1C residue 1384

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1384
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1384

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY1694CMyoclonic epilepsy of infancyMedium9 14738421

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.



CACNA1CIKSFQALPYVALLIVMLFFIYAVIGMQVFG>K<IALND---TTE-----INRNNNFQTFPQAV1406
CACNA1AVQSFKALPYVCLLIAMLFFIYAIIGMQVFG>N<IGIDVEDEDSDEDEFQITEHNNFRTFFQAL1746
CACNA1BVQSFKALPYVCLLIAMLFFIYAIIGMQVFG>N<IALDD---DTS-----INRHNNFRTFLQAL1646
CACNA1DIKSFQALPYVALLIAMLFFIYAVIGMQMFG>K<VAMRD---NNQ-----INRNNNFQTFPQAV1416
CACNA1EVQSFKALPYVCLLIAMLFFIYAIIGMQVFG>N<IKLDE---ESH-----INRHNNFRSFFGSL1653
CACNA1FIKSFQALPYVALLIAMIFFIYAVIGMQMFG>K<VALQD---GTQ-----INRNNNFQTFPQAV1373
CACNA1GMQALPQVGNLGLLFMLLFFIFAALGVELFG>D<LECDET---HP--CEGLGRHATFRNFGMAF1792
CACNA1HVQALPQVGNLGLLFMLLFFIYAALGVELFG>R<LECSED---NP--CEGLSRHATFSNFGMAF1798
CACNA1IVQALPQVGNLGLLFMLLFFIYAALGVELFG>K<LVCNDE---NP--CEGMSRHATFENFGMAF1668
CACNA1SIKSFQALPYVALLIVMLFFIYAVIGMQMFG>K<IALVD---GTQ-----INRNNNFQTFPQAV1313
SCN10AMMSLPALFNIGLLLFLVMFIYSIFGMSSFP>H<VRW-----EAG-----IDDMFNFQTFANSM1651
SCN11AMMSLPSLFNIGLLLFLIMFIYAILGMNWFS>K<VNP-----ESG-----IDDIFNFKTFASSM1541
SCN1AMMSLPALFNIGLLLFLVMFIYAIFGMSNFA>Y<VKR-----EVG-----IDDMFNFETFGNSM1714
SCN2AMMSLPALFNIGLLLFLVMFIYAIFGMSNFA>Y<VKR-----EVG-----IDDMFNFETFGNSM1704
SCN3AMMSLPALFNIGLLLFLVMFIYAIFGMSNFA>Y<VKK-----EAG-----IDDMFNFETFGNSM1699
SCN4AMMSLPALFNIGLLLFLVMFIYSIFGMSNFA>Y<VKK-----ESG-----IDDMFNFETFGNSI1526
SCN5AMMSLPALFNIGLLLFLVMFIYSIFGMANFA>Y<VKW-----EAG-----IDDMFNFQTFANSM1701
SCN7AMLSLPALLNIILLIFLVMFIYAVFGMYNFA>Y<VKK-----EAG-----INDVSNFETFGNSM1424
SCN8AMMSLPALFNIGLLLFLVMFIFSIFGMSNFA>Y<VKH-----EAG-----IDDMFNFETFGNSM1695
SCN9AMMSLPALFNIGLLLFLVMFIYAIFGMSNFA>Y<VKK-----EDG-----INDMFNFETFGNSM1677
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1384 for CACNA1C.