Paralogue Annotation for CACNA1C residue 1345

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1345
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1345

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AG1642EBrugada syndromeHigh9 20129283

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.



CACNA1CEENSRISITFFRLFRV---MRLVKLLSRGE>G<IRTLLWTFIKSFQALPYVALLIVMLFFIYA1375
CACNA1A----FINLSFLRLFRA---ARLIKLLRQGY>T<IRILLWTFVQSFKALPYVCLLIAMLFFIYA1707
CACNA1B--NNFINLSFLRLFRA---ARLIKLLRQGY>T<IRILLWTFVQSFKALPYVCLLIAMLFFIYA1615
CACNA1DEESNRISITFFRLFRV---MRLVKLLSRGE>G<IRTLLWTFIKSFQALPYVALLIAMLFFIYA1385
CACNA1E-NTSGFNMSFLKLFRA---ARLIKLLRQGY>T<IRILLWTFVQSFKALPYVCLLIAMLFFIYA1622
CACNA1FEDSSRISITFFRLFRV---MRLVKLLSKGE>G<IRTLLWTFIKSFQALPYVALLIAMIFFIYA1342
CACNA1G-ASLPINPTIIRIMRVLRIARVLKLLKMAV>G<MRALLDTVMQALPQVGNLGLLFMLLFFIFA1758
CACNA1H-AALPINPTIIRIMRVLRIARVLKLLKMAT>G<MRALLDTVVQALPQVGNLGLLFMLLFFIYA1764
CACNA1I-AALPINPTIIRIMRVLRIARVLKLLKMAT>G<MRALLDTVVQALPQVGNLGLLFMLLFFIYA1634
CACNA1SDESARISSAFFRLFRV---MRLIKLLSRAE>G<VRTLLWTFIKSFQALPYVALLIVMLFFIYA1282
SCN10A-LQSYFSPTLFRVIRLARIGRILRLIRAAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIYS1622
SCN11A-EHIPFPPTLFRIVRLARIGRILRLVRAAR>G<IRTLLFALMMSLPSLFNIGLLLFLIMFIYA1512
SCN1A--KYFVSPTLFRVIRLARIGRILRLIKGAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIYA1685
SCN2A--KYFVSPTLFRVIRLARIGRILRLIKGAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIYA1675
SCN3A--KYFVSPTLFRVIRLARIGRILRLIKGAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIYA1670
SCN4A--KYFVSPTLFRVIRLARIGRVLRLIRGAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIYS1497
SCN5A--KYFFSPTLFRVIRLARIGRILRLIRGAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIYS1672
SCN7A--SYLVPPSLVQLILLSRIIHMLRLGKGPK>V<FHNLMLPLMLSLPALLNIILLIFLVMFIYA1395
SCN8A--KYFVSPTLFRVIRLARIGRILRLIKGAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIFS1666
SCN9A--TYFVSPTLFRVIRLARIGRILRLVKGAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIYA1648
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1345 for CACNA1C.