Paralogue Annotation for CACNA1C residue 981

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 981
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 981

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL1283MLong QT syndromeHigh9 19716085

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.



CACNA1CKMTAYGAFLHKGSFCRNYFNILDLLVVSVS>L<ISF----G----IQSSAINVVKILRVLRVL1003
CACNA1AKMIDLGLVLHQGAYFRDLWNILDFIVVSGA>L<VAFAFTGN----SKGKDINTIKSLRVLRVL1351
CACNA1BKMIDLGLLLHPGAYFRDLWNILDFIVVSGA>L<VAFAFS-G----SKGKDINTIKSLRVLRVL1257
CACNA1DKMTTFGAFLHKGAFCRNYFNLLDMLVVGVS>L<VSF----G----IQSSAISVVKILRVLRVL1009
CACNA1EKMIDQGLILQDGSYFRDLWNILDFVVVVGA>L<VAFALANA-LGTNKGRDIKTIKSLRVLRVL1263
CACNA1FKMTVFGAFLHRGSFCRSWFNMLDLLVVSVS>L<ISF----G----IHSSAISVVKILRVLRVL974
CACNA1GKVVALGWCFGEQAYLRSSWNVLDGLLVLIS>V<IDILVS-MVSD-SGTKILGMLRVLRLLRTL1386
CACNA1HKVVALGLLSGEHAYLQSSWNLLDGLLVLVS>L<VDIVVA-MASA-GGAKILGVLRVLRLLRTL1404
CACNA1IKVVSLGLYFGEQAYLRSSWNVLDGFLVFVS>I<IDIVVS-LASA-GGAKILGVLRVLRLLRTL1280
CACNA1SKMTTYGAFLHKGSFCRNYFNMLDLLVVAVS>L<ISM----G----LESSAISVVKILRVLRVL902
SCN10AKWVAYGF----KKYFTNAWCWLDFLIVNIS>L<ISLTAK-I----LEYSEVAPIKALRTLRAL1255
SCN11AKWVAFGF----GKYFTSAWCCLDFIIVIVS>V<TTLI---------N---LMELKSFRTLRAL1152
SCN1AKWVAYGY----QTYFTNAWCWLDFLIVDVS>L<VSLTAN-A----LGYSELGAIKSLRTLRAL1321
SCN2AKWVAYGF----QVYFTNAWCWLDFLIVDVS>L<VSLTAN-A----LGYSELGAIKSLRTLRAL1311
SCN3AKWVAYGF----QTYFTNAWCWLDFLIVDVS>L<VSLVAN-A----LGYSELGAIKSLRTLRAL1309
SCN4AKWVAYGF----KVYFTNAWCWLDFLIVDVS>I<ISLVAN-W----LGYSELGPIKSLRTLRAL1134
SCN5AKWVAYGF----KKYFTNAWCWLDFLIVDVS>L<VSLVAN-T----LGFAEMGPIKSLRTLRAL1308
SCN7AKWMAYGF----KAYFSNGWYRLDFVVVIVF>C<LSLIGK-T----RE--E---LKPLISMKFL1032
SCN8AKWTAYGF----VKFFTNAWCWLDFLIVAVS>L<VSLIAN-A----LGYSELGAIKSLRTLRAL1301
SCN9AKWIAYGY----KTYFTNAWCWLDFLIVDVS>L<VTLVAN-T----LGYSDLGPIKSLRTLRAL1284
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 981 for CACNA1C.