Paralogue Annotation for CACNA1C residue 1355

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1355
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1355

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AM1652TLong QT syndromeMedium9 19716085
SCN5AM1652RLong QT syndromeMedium9 17698727

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.



CACNA1CFRLFRV---MRLVKLLSRGEGIRTLLWTFI>K<SFQALPYVALLIVMLFFIYAVIGMQVFGKI1385
CACNA1ALRLFRA---ARLIKLLRQGYTIRILLWTFV>Q<SFKALPYVCLLIAMLFFIYAIIGMQVFGNI1717
CACNA1BLRLFRA---ARLIKLLRQGYTIRILLWTFV>Q<SFKALPYVCLLIAMLFFIYAIIGMQVFGNI1625
CACNA1DFRLFRV---MRLVKLLSRGEGIRTLLWTFI>K<SFQALPYVALLIAMLFFIYAVIGMQMFGKV1395
CACNA1ELKLFRA---ARLIKLLRQGYTIRILLWTFV>Q<SFKALPYVCLLIAMLFFIYAIIGMQVFGNI1632
CACNA1FFRLFRV---MRLVKLLSKGEGIRTLLWTFI>K<SFQALPYVALLIAMIFFIYAVIGMQMFGKV1352
CACNA1GIRIMRVLRIARVLKLLKMAVGMRALLDTVM>Q<ALPQVGNLGLLFMLLFFIFAALGVELFGDL1768
CACNA1HIRIMRVLRIARVLKLLKMATGMRALLDTVV>Q<ALPQVGNLGLLFMLLFFIYAALGVELFGRL1774
CACNA1IIRIMRVLRIARVLKLLKMATGMRALLDTVV>Q<ALPQVGNLGLLFMLLFFIYAALGVELFGKL1644
CACNA1SFRLFRV---MRLIKLLSRAEGVRTLLWTFI>K<SFQALPYVALLIVMLFFIYAVIGMQMFGKI1292
SCN10AFRVIRLARIGRILRLIRAAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIYSIFGMSSFPHV1632
SCN11AFRIVRLARIGRILRLVRAARGIRTLLFALM>M<SLPSLFNIGLLLFLIMFIYAILGMNWFSKV1522
SCN1AFRVIRLARIGRILRLIKGAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIYAIFGMSNFAYV1695
SCN2AFRVIRLARIGRILRLIKGAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIYAIFGMSNFAYV1685
SCN3AFRVIRLARIGRILRLIKGAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIYAIFGMSNFAYV1680
SCN4AFRVIRLARIGRVLRLIRGAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIYSIFGMSNFAYV1507
SCN5AFRVIRLARIGRILRLIRGAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIYSIFGMANFAYV1682
SCN7AVQLILLSRIIHMLRLGKGPKVFHNLMLPLM>L<SLPALLNIILLIFLVMFIYAVFGMYNFAYV1405
SCN8AFRVIRLARIGRILRLIKGAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIFSIFGMSNFAYV1676
SCN9AFRVIRLARIGRILRLVKGAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIYAIFGMSNFAYV1658
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1355 for CACNA1C.