Paralogue Annotation for CACNA1C residue 682

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 682
Reference Amino Acid: M - Methionine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 682

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC927FDravet syndromeMedium4 18930999
CACNA1IT797MSchizophreniaMedium4 23911319
SCN10AE825DAtrial fibrillationMedium4 25691686

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.



CACNA1CFSLLGMQLFGGKFNFD-E------------>M<QTRRSTFDNFPQSLLTVFQILTGEDWNSVM712
CACNA1AFALLGMQLFGGQFNFD-E------------>G<-TPPTNFDTFPAAIMTVFQILTGEDWNEVM674
CACNA1BFALLGMQLFGGQFNFQ-D------------>E<-TPTTNFDTFPAAILTVFQILTGEDWNAVM670
CACNA1DFSLLGMQLFGGKFNFD-E------------>T<QTKRSTFDNFPQALLTVFQILTGEDWNAVM731
CACNA1EFALLGMQLFGGRFNFN-D------------>G<-TPSANFDTFPAAIMTVFQILTGEDWNEVM663
CACNA1FFSLLGMQLFGGKFNFD-Q------------>T<HTKRSTFDTFPQALLTVFQILTGEDWNVVM717
CACNA1GFSILGMHLFGCKFASER---------DG-D>T<LPDRKNFDSLLWAIVTVFQILTQEDWNKVL929
CACNA1HFSILGMHLFGCKFSLKTD--------TG-D>T<VPDRKNFDSLLWAIVTVFQILTQEDWNVVL980
CACNA1IFSILGMHIFGCKFSLRTD--------TG-D>T<VPDRKNFDSLLWAIVTVFQILTQEDWNVVL827
CACNA1SFALLGMQLFGGRYDFE-D------------>T<EVRRSNFDNFPQALISVFQVLTGEDWTSMM620
SCN10AFALVGKQLLGENYRNN-RKN----I-SAPH>E<DWPRWHMHDFFHSFLIVFRILCGE-WIENM854
SCN11AFSVVGMQLFGRSFNSQ-KSPKLCNPTGPTV>S<CLRHWHMGDFWHSFLVVFRILCGE-WIENM773
SCN1AFAVVGMQLFGKSYKDC-VCK----I-AS-D>C<QLPRWHMNDFFHSFLIVFRVLCGE-WIETM956
SCN2AFAVVGMQLFGKSYKEC-VCK----I-SN-D>C<ELPRWHMHDFFHSFLIVFRVLCGE-WIETM947
SCN3AFAVVGMQLFGKSYKEC-VCK----I-ND-D>C<TLPRWHMNDFFHSFLIVFRVLCGE-WIETM948
SCN4AFAVVGMQLFGKSYKEC-VCK----I-AL-D>C<NLPRWHMHDFFHSFLIVFRILCGE-WIETM766
SCN5AFAVVGMQLFGKNYSEL-RDS----D-SG-->-<LLPRWHMMDFFHAFLIIFRILCGE-WIETM903
SCN7ASAAFGMKLFGKNYEEF-VCH----I-DK-D>C<QLPRWHMHDFFHSFLNVFRILCGE-WVETL693
SCN8AFAVVGMQLFGKSYKEC-VCK----I-NQ-D>C<ELPRWHMHDFFHSFLIVFRVLCGE-WIETM941
SCN9AFAVVGMQLFGKSYKEC-VCK----I-ND-D>C<TLPRWHMNDFFHSFLIVFRVLCGE-WIETM921
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 682 for CACNA1C.