Paralogue Annotation for CACNA1C residue 1319

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1319
Reference Amino Acid: E - Glutamate
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1319

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HA1705TIdiopathic epilepsy, generalisedLow2 17696120, 25773295

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.



CACNA1CDIAITEVNPAE----HTQ----CSPSMNAE>E<NSRISITFFRLFRV---MRLVKLLSRGEGI1346
CACNA1ADILVTEFGNN-------------------->-<--FINLSFLRLFRA---ARLIKLLRQGYTI1678
CACNA1BDILVTEIAET-------------------->-<NNFINLSFLRLFRA---ARLIKLLRQGYTI1586
CACNA1DDVALSEADPTE----SENVPVPTATPGNSE>E<SNRISITFFRLFRV---MRLVKLLSRGEGI1356
CACNA1EEIILTDSKLV-------------------->N<TSGFNMSFLKLFRA---ARLIKLLRQGYTI1593
CACNA1FDIAVTEVNNGG----HLG----E----SSE>D<SSRISITFFRLFRV---MRLVKLLSKGEGI1313
CACNA1GGITLEEIEVN-------------------->A<SLPINPTIIRIMRVLRIARVLKLLKMAVGM1729
CACNA1HGITLEEIEMS-------------------->A<ALPINPTIIRIMRVLRIARVLKLLKMATGM1735
CACNA1IGITLEEIEIN-------------------->A<ALPINPTIIRIMRVLRIARVLKLLKMATGM1605
CACNA1SDVILSEIDTFLASSGGLYCLGGGCGNVDPD>E<SARISSAFFRLFRV---MRLIKLLSRAEGV1253
SCN10ASLIFSAILKS-------------------->L<QSYFSPTLFRVIRLARIGRILRLIRAAKGI1593
SCN11ASTMISTLENQ-------------------->E<HIPFPPTLFRIVRLARIGRILRLVRAARGI1483
SCN1AGMFLAELIE--------------------->-<KYFVSPTLFRVIRLARIGRILRLIKGAKGI1656
SCN2AGMFLAELIE--------------------->-<KYFVSPTLFRVIRLARIGRILRLIKGAKGI1646
SCN3AGMFLAEMIE--------------------->-<KYFVSPTLFRVIRLARIGRILRLIKGAKGI1641
SCN4AGLALSDLIQ--------------------->-<KYFVSPTLFRVIRLARIGRVLRLIRGAKGI1468
SCN5AGTVLSDIIQ--------------------->-<KYFFSPTLFRVIRLARIGRILRLIRGAKGI1643
SCN7AGLCLPMTVG--------------------->-<SYLVPPSLVQLILLSRIIHMLRLGKGPKVF1366
SCN8AGMFLADIIE--------------------->-<KYFVSPTLFRVIRLARIGRILRLIKGAKGI1637
SCN9AGMFLADLIE--------------------->-<TYFVSPTLFRVIRLARIGRILRLVKGAKGI1619
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1319 for CACNA1C.