Paralogue Annotation for CACNA1C residue 1373

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1373
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1373

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AI1495FHyperkalaemic periodic paralysisHigh9 10366610, 10366610
SCN1AI1683TDravet syndrome C ?High9 21248271, 23195492
SCN1AI1683FEpilepsy ?High9 21248271

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.



CACNA1CGEGIRTLLWTFIKSFQALPYVALLIVMLFF>I<YAVIGMQVFGKIALND---TTE-----INR1395
CACNA1AGYTIRILLWTFVQSFKALPYVCLLIAMLFF>I<YAIIGMQVFGNIGIDVEDEDSDEDEFQITE1735
CACNA1BGYTIRILLWTFVQSFKALPYVCLLIAMLFF>I<YAIIGMQVFGNIALDD---DTS-----INR1635
CACNA1DGEGIRTLLWTFIKSFQALPYVALLIAMLFF>I<YAVIGMQMFGKVAMRD---NNQ-----INR1405
CACNA1EGYTIRILLWTFVQSFKALPYVCLLIAMLFF>I<YAIIGMQVFGNIKLDE---ESH-----INR1642
CACNA1FGEGIRTLLWTFIKSFQALPYVALLIAMIFF>I<YAVIGMQMFGKVALQD---GTQ-----INR1362
CACNA1GAVGMRALLDTVMQALPQVGNLGLLFMLLFF>I<FAALGVELFGDLECDET---HP--CEGLGR1781
CACNA1HATGMRALLDTVVQALPQVGNLGLLFMLLFF>I<YAALGVELFGRLECSED---NP--CEGLSR1787
CACNA1IATGMRALLDTVVQALPQVGNLGLLFMLLFF>I<YAALGVELFGKLVCNDE---NP--CEGMSR1657
CACNA1SAEGVRTLLWTFIKSFQALPYVALLIVMLFF>I<YAVIGMQMFGKIALVD---GTQ-----INR1302
SCN10AAKGIRTLLFALMMSLPALFNIGLLLFLVMF>I<YSIFGMSSFPHVRW-----EAG-----IDD1640
SCN11AARGIRTLLFALMMSLPSLFNIGLLLFLIMF>I<YAILGMNWFSKVNP-----ESG-----IDD1530
SCN1AAKGIRTLLFALMMSLPALFNIGLLLFLVMF>I<YAIFGMSNFAYVKR-----EVG-----IDD1703
SCN2AAKGIRTLLFALMMSLPALFNIGLLLFLVMF>I<YAIFGMSNFAYVKR-----EVG-----IDD1693
SCN3AAKGIRTLLFALMMSLPALFNIGLLLFLVMF>I<YAIFGMSNFAYVKK-----EAG-----IDD1688
SCN4AAKGIRTLLFALMMSLPALFNIGLLLFLVMF>I<YSIFGMSNFAYVKK-----ESG-----IDD1515
SCN5AAKGIRTLLFALMMSLPALFNIGLLLFLVMF>I<YSIFGMANFAYVKW-----EAG-----IDD1690
SCN7APKVFHNLMLPLMLSLPALLNIILLIFLVMF>I<YAVFGMYNFAYVKK-----EAG-----IND1413
SCN8AAKGIRTLLFALMMSLPALFNIGLLLFLVMF>I<FSIFGMSNFAYVKH-----EAG-----IDD1684
SCN9AAKGIRTLLFALMMSLPALFNIGLLLFLVMF>I<YAIFGMSNFAYVKK-----EDG-----IND1666
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1373 for CACNA1C.