Paralogue Annotation for CACNA1C residue 993

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 993
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 993

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AP1298LNodal rhythmMedium9 14523039, 20384651, 20448214, 20539757

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.



CACNA1CILDLLVVSVSLISF----G----IQSSAIN>V<VKILRVLRVLRPLRAINRAKGLKHVVQCVF1023
CACNA1AILDFIVVSGALVAFAFTGN----SKGKDIN>T<IKSLRVLRVLRPLKTIKRLPKLKAVFDCVV1371
CACNA1BILDFIVVSGALVAFAFS-G----SKGKDIN>T<IKSLRVLRVLRPLKTIKRLPKLKAVFDCVV1277
CACNA1DLLDMLVVGVSLVSF----G----IQSSAIS>V<VKILRVLRVLRPLRAINRAKGLKHVVQCVF1029
CACNA1EILDFVVVVGALVAFALANA-LGTNKGRDIK>T<IKSLRVLRVLRPLKTIKRLPKLKAVFDCVV1283
CACNA1FMLDLLVVSVSLISF----G----IHSSAIS>V<VKILRVLRVLRPLRAINRAKGLKHVVQCVF994
CACNA1GVLDGLLVLISVIDILVS-MVSD-SGTKILG>M<LRVLRLLRTLRPLRVISRAQGLKLVVETLM1406
CACNA1HLLDGLLVLVSLVDIVVA-MASA-GGAKILG>V<LRVLRLLRTLRPLRVISRAPGLKLVVETLI1424
CACNA1IVLDGFLVFVSIIDIVVS-LASA-GGAKILG>V<LRVLRLLRTLRPLRVISRAPGLKLVVETLI1300
CACNA1SMLDLLVVAVSLISM----G----LESSAIS>V<VKILRVLRVLRPLRAINRAKGLKHVVQCMF922
SCN10AWLDFLIVNISLISLTAK-I----LEYSEVA>P<IKALRTLRALRPLRALSRFEGMRVVVDALV1275
SCN11ACLDFIIVIVSVTTLI---------N---LM>E<LKSFRTLRALRPLRALSQFEGMKVVVNALI1172
SCN1AWLDFLIVDVSLVSLTAN-A----LGYSELG>A<IKSLRTLRALRPLRALSRFEGMRVVVNALL1341
SCN2AWLDFLIVDVSLVSLTAN-A----LGYSELG>A<IKSLRTLRALRPLRALSRFEGMRVVVNALL1331
SCN3AWLDFLIVDVSLVSLVAN-A----LGYSELG>A<IKSLRTLRALRPLRALSRFEGMRVVVNALV1329
SCN4AWLDFLIVDVSIISLVAN-W----LGYSELG>P<IKSLRTLRALRPLRALSRFEGMRVVVNALL1154
SCN5AWLDFLIVDVSLVSLVAN-T----LGFAEMG>P<IKSLRTLRALRPLRALSRFEGMRVVVNALV1328
SCN7ARLDFVVVIVFCLSLIGK-T----RE--E-->-<LKPLISMKFLRPLRVLSQFERMKVVVRALI1052
SCN8AWLDFLIVAVSLVSLIAN-A----LGYSELG>A<IKSLRTLRALRPLRALSRFEGMRVVVNALV1321
SCN9AWLDFLIVDVSLVTLVAN-T----LGYSDLG>P<IKSLRTLRALRPLRALSRFEGMRVVVNALI1304
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 993 for CACNA1C.