Paralogue Annotation for CACNA1C residue 1322

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1322
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1322

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AF1616YSick sinus syndromeMedium6 26798387

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.



CACNA1CITEVNPAE----HTQ----CSPSMNAEENS>R<ISITFFRLFRV---MRLVKLLSRGEGIRTL1349
CACNA1AVTEFGNN----------------------->F<INLSFLRLFRA---ARLIKLLRQGYTIRIL1681
CACNA1BVTEIAET---------------------NN>F<INLSFLRLFRA---ARLIKLLRQGYTIRIL1589
CACNA1DLSEADPTE----SENVPVPTATPGNSEESN>R<ISITFFRLFRV---MRLVKLLSRGEGIRTL1359
CACNA1ELTDSKLV--------------------NTS>G<FNMSFLKLFRA---ARLIKLLRQGYTIRIL1596
CACNA1FVTEVNNGG----HLG----E----SSEDSS>R<ISITFFRLFRV---MRLVKLLSKGEGIRTL1316
CACNA1GLEEIEVN--------------------ASL>P<INPTIIRIMRVLRIARVLKLLKMAVGMRAL1732
CACNA1HLEEIEMS--------------------AAL>P<INPTIIRIMRVLRIARVLKLLKMATGMRAL1738
CACNA1ILEEIEIN--------------------AAL>P<INPTIIRIMRVLRIARVLKLLKMATGMRAL1608
CACNA1SLSEIDTFLASSGGLYCLGGGCGNVDPDESA>R<ISSAFFRLFRV---MRLIKLLSRAEGVRTL1256
SCN10AFSAILKS--------------------LQS>Y<FSPTLFRVIRLARIGRILRLIRAAKGIRTL1596
SCN11AISTLENQ--------------------EHI>P<FPPTLFRIVRLARIGRILRLVRAARGIRTL1486
SCN1ALAELIE----------------------KY>F<VSPTLFRVIRLARIGRILRLIKGAKGIRTL1659
SCN2ALAELIE----------------------KY>F<VSPTLFRVIRLARIGRILRLIKGAKGIRTL1649
SCN3ALAEMIE----------------------KY>F<VSPTLFRVIRLARIGRILRLIKGAKGIRTL1644
SCN4ALSDLIQ----------------------KY>F<VSPTLFRVIRLARIGRVLRLIRGAKGIRTL1471
SCN5ALSDIIQ----------------------KY>F<FSPTLFRVIRLARIGRILRLIRGAKGIRTL1646
SCN7ALPMTVG----------------------SY>L<VPPSLVQLILLSRIIHMLRLGKGPKVFHNL1369
SCN8ALADIIE----------------------KY>F<VSPTLFRVIRLARIGRILRLIKGAKGIRTL1640
SCN9ALADLIE----------------------TY>F<VSPTLFRVIRLARIGRILRLVKGAKGIRTL1622
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1322 for CACNA1C.