Paralogue Annotation for CACNA1C residue 1382

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1382
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1382

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1692SMyoclonic epilepsy of infancyHigh9 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.



CACNA1CTFIKSFQALPYVALLIVMLFFIYAVIGMQV>F<GKIALND---TTE-----INRNNNFQTFPQ1404
CACNA1ATFVQSFKALPYVCLLIAMLFFIYAIIGMQV>F<GNIGIDVEDEDSDEDEFQITEHNNFRTFFQ1744
CACNA1BTFVQSFKALPYVCLLIAMLFFIYAIIGMQV>F<GNIALDD---DTS-----INRHNNFRTFLQ1644
CACNA1DTFIKSFQALPYVALLIAMLFFIYAVIGMQM>F<GKVAMRD---NNQ-----INRNNNFQTFPQ1414
CACNA1ETFVQSFKALPYVCLLIAMLFFIYAIIGMQV>F<GNIKLDE---ESH-----INRHNNFRSFFG1651
CACNA1FTFIKSFQALPYVALLIAMIFFIYAVIGMQM>F<GKVALQD---GTQ-----INRNNNFQTFPQ1371
CACNA1GTVMQALPQVGNLGLLFMLLFFIFAALGVEL>F<GDLECDET---HP--CEGLGRHATFRNFGM1790
CACNA1HTVVQALPQVGNLGLLFMLLFFIYAALGVEL>F<GRLECSED---NP--CEGLSRHATFSNFGM1796
CACNA1ITVVQALPQVGNLGLLFMLLFFIYAALGVEL>F<GKLVCNDE---NP--CEGMSRHATFENFGM1666
CACNA1STFIKSFQALPYVALLIVMLFFIYAVIGMQM>F<GKIALVD---GTQ-----INRNNNFQTFPQ1311
SCN10AALMMSLPALFNIGLLLFLVMFIYSIFGMSS>F<PHVRW-----EAG-----IDDMFNFQTFAN1649
SCN11AALMMSLPSLFNIGLLLFLIMFIYAILGMNW>F<SKVNP-----ESG-----IDDIFNFKTFAS1539
SCN1AALMMSLPALFNIGLLLFLVMFIYAIFGMSN>F<AYVKR-----EVG-----IDDMFNFETFGN1712
SCN2AALMMSLPALFNIGLLLFLVMFIYAIFGMSN>F<AYVKR-----EVG-----IDDMFNFETFGN1702
SCN3AALMMSLPALFNIGLLLFLVMFIYAIFGMSN>F<AYVKK-----EAG-----IDDMFNFETFGN1697
SCN4AALMMSLPALFNIGLLLFLVMFIYSIFGMSN>F<AYVKK-----ESG-----IDDMFNFETFGN1524
SCN5AALMMSLPALFNIGLLLFLVMFIYSIFGMAN>F<AYVKW-----EAG-----IDDMFNFQTFAN1699
SCN7APLMLSLPALLNIILLIFLVMFIYAVFGMYN>F<AYVKK-----EAG-----INDVSNFETFGN1422
SCN8AALMMSLPALFNIGLLLFLVMFIFSIFGMSN>F<AYVKH-----EAG-----IDDMFNFETFGN1693
SCN9AALMMSLPALFNIGLLLFLVMFIYAIFGMSN>F<AYVKK-----EDG-----INDMFNFETFGN1675
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1382 for CACNA1C.