Paralogue Annotation for CACNA1C residue 1026

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1026
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1026

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1344MMyoclonic epilepsy of infancyHigh9 23195492

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.



CACNA1CILRVLRVLRPLRAINRAKGLKHVVQCVFVA>I<RTIGNIVIVTTLLQFMFACIGVQLFKGKLY1056
CACNA1ASLRVLRVLRPLKTIKRLPKLKAVFDCVVNS>L<KNVFNILIVYMLFMFIFAVVAVQLFKGKFF1404
CACNA1BSLRVLRVLRPLKTIKRLPKLKAVFDCVVNS>L<KNVLNILIVYMLFMFIFAVIAVQLFKGKFF1310
CACNA1DILRVLRVLRPLRAINRAKGLKHVVQCVFVA>I<RTIGNIMIVTTLLQFMFACIGVQLFKGKFY1062
CACNA1ESLRVLRVLRPLKTIKRLPKLKAVFDCVVTS>L<KNVFNILIVYKLFMFIFAVIAVQLFKGKFF1316
CACNA1FILRVLRVLRPLRAINRAKGLKHVVQCVFVA>I<RTIGNIMIVTTLLQFMFACIGVQLFKGKFY1027
CACNA1GVLRLLRTLRPLRVISRAQGLKLVVETLMSS>L<KPIGNIVVICCAFFIIFGILGVQLFKGKFF1439
CACNA1HVLRLLRTLRPLRVISRAPGLKLVVETLISS>L<RPIGNIVLICCAFFIIFGILGVQLFKGKFY1457
CACNA1IVLRLLRTLRPLRVISRAPGLKLVVETLISS>L<KPIGNIVLICCAFFIIFGILGVQLFKGKFY1333
CACNA1SILRVLRVLRPLRAINRAKGLKHVVQCMFVA>I<STIGNIVLVTTLLQFMFACIGVQLFKGKFF955
SCN10AALRTLRALRPLRALSRFEGMRVVVDALVGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKFW1308
SCN11ASFRTLRALRPLRALSQFEGMKVVVNALIGA>I<PAILNVLLVCLIFWLVFCILGVYFFSGKFG1205
SCN1ASLRTLRALRPLRALSRFEGMRVVVNALLGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY1374
SCN2ASLRTLRALRPLRALSRFEGMRVVVNALLGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY1364
SCN3ASLRTLRALRPLRALSRFEGMRVVVNALVGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY1362
SCN4ASLRTLRALRPLRALSRFEGMRVVVNALLGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY1187
SCN5ASLRTLRALRPLRALSRFEGMRVVVNALVGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKFG1361
SCN7APLISMKFLRPLRVLSQFERMKVVVRALIKT>T<LPTLNVFLVCLMIWLIFSIMGVDLFAGRFY1085
SCN8ASLRTLRALRPLRALSRFEGMRVVVNALVGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKYH1354
SCN9ASLRTLRALRPLRALSRFEGMRVVVNALIGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY1337
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1026 for CACNA1C.