Paralogue Annotation for CACNA1C residue 1378

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1378
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1378

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1688WDravet syndrome C ?High9 21248271
SCN1AG1688VDravet syndromeHigh9 26096185

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.



CACNA1CTLLWTFIKSFQALPYVALLIVMLFFIYAVI>G<MQVFGKIALND---TTE-----INRNNNFQ1400
CACNA1AILLWTFVQSFKALPYVCLLIAMLFFIYAII>G<MQVFGNIGIDVEDEDSDEDEFQITEHNNFR1740
CACNA1BILLWTFVQSFKALPYVCLLIAMLFFIYAII>G<MQVFGNIALDD---DTS-----INRHNNFR1640
CACNA1DTLLWTFIKSFQALPYVALLIAMLFFIYAVI>G<MQMFGKVAMRD---NNQ-----INRNNNFQ1410
CACNA1EILLWTFVQSFKALPYVCLLIAMLFFIYAII>G<MQVFGNIKLDE---ESH-----INRHNNFR1647
CACNA1FTLLWTFIKSFQALPYVALLIAMIFFIYAVI>G<MQMFGKVALQD---GTQ-----INRNNNFQ1367
CACNA1GALLDTVMQALPQVGNLGLLFMLLFFIFAAL>G<VELFGDLECDET---HP--CEGLGRHATFR1786
CACNA1HALLDTVVQALPQVGNLGLLFMLLFFIYAAL>G<VELFGRLECSED---NP--CEGLSRHATFS1792
CACNA1IALLDTVVQALPQVGNLGLLFMLLFFIYAAL>G<VELFGKLVCNDE---NP--CEGMSRHATFE1662
CACNA1STLLWTFIKSFQALPYVALLIVMLFFIYAVI>G<MQMFGKIALVD---GTQ-----INRNNNFQ1307
SCN10ATLLFALMMSLPALFNIGLLLFLVMFIYSIF>G<MSSFPHVRW-----EAG-----IDDMFNFQ1645
SCN11ATLLFALMMSLPSLFNIGLLLFLIMFIYAIL>G<MNWFSKVNP-----ESG-----IDDIFNFK1535
SCN1ATLLFALMMSLPALFNIGLLLFLVMFIYAIF>G<MSNFAYVKR-----EVG-----IDDMFNFE1708
SCN2ATLLFALMMSLPALFNIGLLLFLVMFIYAIF>G<MSNFAYVKR-----EVG-----IDDMFNFE1698
SCN3ATLLFALMMSLPALFNIGLLLFLVMFIYAIF>G<MSNFAYVKK-----EAG-----IDDMFNFE1693
SCN4ATLLFALMMSLPALFNIGLLLFLVMFIYSIF>G<MSNFAYVKK-----ESG-----IDDMFNFE1520
SCN5ATLLFALMMSLPALFNIGLLLFLVMFIYSIF>G<MANFAYVKW-----EAG-----IDDMFNFQ1695
SCN7ANLMLPLMLSLPALLNIILLIFLVMFIYAVF>G<MYNFAYVKK-----EAG-----INDVSNFE1418
SCN8ATLLFALMMSLPALFNIGLLLFLVMFIFSIF>G<MSNFAYVKH-----EAG-----IDDMFNFE1689
SCN9ATLLFALMMSLPALFNIGLLLFLVMFIYAIF>G<MSNFAYVKK-----EDG-----INDMFNFE1671
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1378 for CACNA1C.