Paralogue Annotation for CACNA1C residue 1383

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1383
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1383

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AA1680TSudden adult death syndromeMedium9 16712702, 23631430
CACNA1FG1350VNight blindness, congenital stationary, incompleteHigh9 25307992

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.



CACNA1CFIKSFQALPYVALLIVMLFFIYAVIGMQVF>G<KIALND---TTE-----INRNNNFQTFPQA1405
CACNA1AFVQSFKALPYVCLLIAMLFFIYAIIGMQVF>G<NIGIDVEDEDSDEDEFQITEHNNFRTFFQA1745
CACNA1BFVQSFKALPYVCLLIAMLFFIYAIIGMQVF>G<NIALDD---DTS-----INRHNNFRTFLQA1645
CACNA1DFIKSFQALPYVALLIAMLFFIYAVIGMQMF>G<KVAMRD---NNQ-----INRNNNFQTFPQA1415
CACNA1EFVQSFKALPYVCLLIAMLFFIYAIIGMQVF>G<NIKLDE---ESH-----INRHNNFRSFFGS1652
CACNA1FFIKSFQALPYVALLIAMIFFIYAVIGMQMF>G<KVALQD---GTQ-----INRNNNFQTFPQA1372
CACNA1GVMQALPQVGNLGLLFMLLFFIFAALGVELF>G<DLECDET---HP--CEGLGRHATFRNFGMA1791
CACNA1HVVQALPQVGNLGLLFMLLFFIYAALGVELF>G<RLECSED---NP--CEGLSRHATFSNFGMA1797
CACNA1IVVQALPQVGNLGLLFMLLFFIYAALGVELF>G<KLVCNDE---NP--CEGMSRHATFENFGMA1667
CACNA1SFIKSFQALPYVALLIVMLFFIYAVIGMQMF>G<KIALVD---GTQ-----INRNNNFQTFPQA1312
SCN10ALMMSLPALFNIGLLLFLVMFIYSIFGMSSF>P<HVRW-----EAG-----IDDMFNFQTFANS1650
SCN11ALMMSLPSLFNIGLLLFLIMFIYAILGMNWF>S<KVNP-----ESG-----IDDIFNFKTFASS1540
SCN1ALMMSLPALFNIGLLLFLVMFIYAIFGMSNF>A<YVKR-----EVG-----IDDMFNFETFGNS1713
SCN2ALMMSLPALFNIGLLLFLVMFIYAIFGMSNF>A<YVKR-----EVG-----IDDMFNFETFGNS1703
SCN3ALMMSLPALFNIGLLLFLVMFIYAIFGMSNF>A<YVKK-----EAG-----IDDMFNFETFGNS1698
SCN4ALMMSLPALFNIGLLLFLVMFIYSIFGMSNF>A<YVKK-----ESG-----IDDMFNFETFGNS1525
SCN5ALMMSLPALFNIGLLLFLVMFIYSIFGMANF>A<YVKW-----EAG-----IDDMFNFQTFANS1700
SCN7ALMLSLPALLNIILLIFLVMFIYAVFGMYNF>A<YVKK-----EAG-----INDVSNFETFGNS1423
SCN8ALMMSLPALFNIGLLLFLVMFIFSIFGMSNF>A<YVKH-----EAG-----IDDMFNFETFGNS1694
SCN9ALMMSLPALFNIGLLLFLVMFIYAIFGMSNF>A<YVKK-----EDG-----INDMFNFETFGNS1676
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1383 for CACNA1C.