Paralogue Annotation for CACNA1C residue 1044

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1044
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1044

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS1362RDravet syndromeMedium9 24168886
CACNA1FA1015TCone-rod dystrophyHigh9 26992781

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.



CACNA1CGLKHVVQCVFVAIRTIGNIVIVTTLLQFMF>A<CIGVQLFKGKLYTCSDSSKQTEAECKGNYI1074
CACNA1AKLKAVFDCVVNSLKNVFNILIVYMLFMFIF>A<VVAVQLFKGKFFHCTDESKEFEKDCRGKYL1422
CACNA1BKLKAVFDCVVNSLKNVLNILIVYMLFMFIF>A<VIAVQLFKGKFFYCTDESKELERDCRGQYL1328
CACNA1DGLKHVVQCVFVAIRTIGNIMIVTTLLQFMF>A<CIGVQLFKGKFYRCTDEAKSNPEECRGLFI1080
CACNA1EKLKAVFDCVVTSLKNVFNILIVYKLFMFIF>A<VIAVQLFKGKFFYCTDSSKDTEKECIGNYV1334
CACNA1FGLKHVVQCVFVAIRTIGNIMIVTTLLQFMF>A<CIGVQLFKGKFYTCTDEAKHTPQECKGSFL1045
CACNA1GGLKLVVETLMSSLKPIGNIVVICCAFFIIF>G<ILGVQLFKGKFFVCQGED---------TRN1448
CACNA1HGLKLVVETLISSLRPIGNIVLICCAFFIIF>G<ILGVQLFKGKFYYCEGPD---------TRN1466
CACNA1IGLKLVVETLISSLKPIGNIVLICCAFFIIF>G<ILGVQLFKGKFYHCLGVD---------TRN1342
CACNA1SGLKHVVQCMFVAISTIGNIVLVTTLLQFMF>A<CIGVQLFKGKFFRCTDLSKMTEEECRGYYY973
SCN10AGMRVVVDALVGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKFWRCINYTDGEF-SLVPLSI1325
SCN11AGMKVVVNALIGAIPAILNVLLVCLIFWLVF>C<ILGVYFFSGKFGKCINGTDSVI----NYTI1219
SCN1AGMRVVVNALLGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKFYHCINTTTGDR---FDIED1389
SCN2AGMRVVVNALLGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKFYHCINYTTGEM---FDVSV1379
SCN3AGMRVVVNALVGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKFYHCVNMTTGNM---FDISD1377
SCN4AGMRVVVNALLGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKFYYCINTTTSER---FDISE1202
SCN5AGMRVVVNALVGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKFGRCINQTEGDL-P-LNYTI1377
SCN7ARMKVVVRALIKTTLPTLNVFLVCLMIWLIF>S<IMGVDLFAGRFYECIDPTSGER---FPSSE1100
SCN8AGMRVVVNALVGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKYHYCFNETSEIR---FEIED1369
SCN9AGMRVVVNALIGAIPSIMNVLLVCLIFWLIF>S<IMGVNLFAGKFYECINTTDGSR---FPASQ1352
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1044 for CACNA1C.