Paralogue Annotation for CACNA1C residue 1360

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1360
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4

Paralogue Variants mapped to CACNA1C residue 1360

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	L1660W	Encephalopathy, recurrent	High	9	25457084

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	V---MRLVKLLSRGEGIRTLLWTFIKSFQA>L<PYVALLIVMLFFIYAVIGMQVFGKIALND-	1389
CACNA1A	A---ARLIKLLRQGYTIRILLWTFVQSFKA>L<PYVCLLIAMLFFIYAIIGMQVFGNIGIDVE	1722
CACNA1B	A---ARLIKLLRQGYTIRILLWTFVQSFKA>L<PYVCLLIAMLFFIYAIIGMQVFGNIALDD-	1629
CACNA1D	V---MRLVKLLSRGEGIRTLLWTFIKSFQA>L<PYVALLIAMLFFIYAVIGMQMFGKVAMRD-	1399
CACNA1E	A---ARLIKLLRQGYTIRILLWTFVQSFKA>L<PYVCLLIAMLFFIYAIIGMQVFGNIKLDE-	1636
CACNA1F	V---MRLVKLLSKGEGIRTLLWTFIKSFQA>L<PYVALLIAMIFFIYAVIGMQMFGKVALQD-	1356
CACNA1G	VLRIARVLKLLKMAVGMRALLDTVMQALPQ>V<GNLGLLFMLLFFIFAALGVELFGDLECDET	1773
CACNA1H	VLRIARVLKLLKMATGMRALLDTVVQALPQ>V<GNLGLLFMLLFFIYAALGVELFGRLECSED	1779
CACNA1I	VLRIARVLKLLKMATGMRALLDTVVQALPQ>V<GNLGLLFMLLFFIYAALGVELFGKLVCNDE	1649
CACNA1S	V---MRLIKLLSRAEGVRTLLWTFIKSFQA>L<PYVALLIVMLFFIYAVIGMQMFGKIALVD-	1296
SCN10A	LARIGRILRLIRAAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIYSIFGMSSFPHVRW---	1634
SCN11A	LARIGRILRLVRAARGIRTLLFALMMSLPS>L<FNIGLLLFLIMFIYAILGMNWFSKVNP---	1524
SCN1A	LARIGRILRLIKGAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIYAIFGMSNFAYVKR---	1697
SCN2A	LARIGRILRLIKGAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIYAIFGMSNFAYVKR---	1687
SCN3A	LARIGRILRLIKGAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIYAIFGMSNFAYVKK---	1682
SCN4A	LARIGRVLRLIRGAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIYSIFGMSNFAYVKK---	1509
SCN5A	LARIGRILRLIRGAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIYSIFGMANFAYVKW---	1684
SCN7A	LSRIIHMLRLGKGPKVFHNLMLPLMLSLPA>L<LNIILLIFLVMFIYAVFGMYNFAYVKK---	1407
SCN8A	LARIGRILRLIKGAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIFSIFGMSNFAYVKH---	1678
SCN9A	LARIGRILRLVKGAKGIRTLLFALMMSLPA>L<FNIGLLLFLVMFIYAIFGMSNFAYVKK---	1660
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Leu1360Val	c.4078C>G	Unknown			SIFT: Polyphen: