Paralogue Annotation for CACNA1C residue 1336

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1336
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1336

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AV1458FParamyotonia congenitaMedium7 9300659

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.



CACNA1C--CSPSMNAEENSRISITFFRLFRV---MR>L<VKLLSRGEGIRTLLWTFIKSFQALPYVALL1366
CACNA1A-------------FINLSFLRLFRA---AR>L<IKLLRQGYTIRILLWTFVQSFKALPYVCLL1698
CACNA1B-----------NNFINLSFLRLFRA---AR>L<IKLLRQGYTIRILLWTFVQSFKALPYVCLL1606
CACNA1DVPTATPGNSEESNRISITFFRLFRV---MR>L<VKLLSRGEGIRTLLWTFIKSFQALPYVALL1376
CACNA1E----------NTSGFNMSFLKLFRA---AR>L<IKLLRQGYTIRILLWTFVQSFKALPYVCLL1613
CACNA1F--E----SSEDSSRISITFFRLFRV---MR>L<VKLLSKGEGIRTLLWTFIKSFQALPYVALL1333
CACNA1G----------ASLPINPTIIRIMRVLRIAR>V<LKLLKMAVGMRALLDTVMQALPQVGNLGLL1749
CACNA1H----------AALPINPTIIRIMRVLRIAR>V<LKLLKMATGMRALLDTVVQALPQVGNLGLL1755
CACNA1I----------AALPINPTIIRIMRVLRIAR>V<LKLLKMATGMRALLDTVVQALPQVGNLGLL1625
CACNA1SGGGCGNVDPDESARISSAFFRLFRV---MR>L<IKLLSRAEGVRTLLWTFIKSFQALPYVALL1273
SCN10A----------LQSYFSPTLFRVIRLARIGR>I<LRLIRAAKGIRTLLFALMMSLPALFNIGLL1613
SCN11A----------EHIPFPPTLFRIVRLARIGR>I<LRLVRAARGIRTLLFALMMSLPSLFNIGLL1503
SCN1A-----------KYFVSPTLFRVIRLARIGR>I<LRLIKGAKGIRTLLFALMMSLPALFNIGLL1676
SCN2A-----------KYFVSPTLFRVIRLARIGR>I<LRLIKGAKGIRTLLFALMMSLPALFNIGLL1666
SCN3A-----------KYFVSPTLFRVIRLARIGR>I<LRLIKGAKGIRTLLFALMMSLPALFNIGLL1661
SCN4A-----------KYFVSPTLFRVIRLARIGR>V<LRLIRGAKGIRTLLFALMMSLPALFNIGLL1488
SCN5A-----------KYFFSPTLFRVIRLARIGR>I<LRLIRGAKGIRTLLFALMMSLPALFNIGLL1663
SCN7A-----------SYLVPPSLVQLILLSRIIH>M<LRLGKGPKVFHNLMLPLMLSLPALLNIILL1386
SCN8A-----------KYFVSPTLFRVIRLARIGR>I<LRLIKGAKGIRTLLFALMMSLPALFNIGLL1657
SCN9A-----------TYFVSPTLFRVIRLARIGR>I<LRLVKGAKGIRTLLFALMMSLPALFNIGLL1639
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1336 for CACNA1C.