Paralogue Annotation for CACNA1C residue 1484

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1484
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1484

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AE1780GIrritable bowel syndromeMedium9 24613995, 25650408

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.



CACNA1CFYFISFYMLCAFLIINLFVAVIMDNFDYLT>R<DWSI-LGPHHLDEFKRIWAEYDPEAKGRIK1513
CACNA1AFYFVSFIFLCSFLMLNLFVAVIMDNFEYLT>R<DSSI-LGPHHLDEYVRVWAEYDPAACGRIH1848
CACNA1BFYFVSFIFLCSFLMLNLFVAVIMDNFEYLT>R<DSSI-LGPHHLDEFIRVWAEYDPAACGRIS1746
CACNA1DVYFISFYMLCAFLIINLFVAVIMDNFDYLT>R<DWSI-LGPHHLDEFKRIWSEYDPEAKGRIK1521
CACNA1EVYFVSFIFFCSFLMLNLFVAVIMDNFEYLT>R<DSSI-LGPHHLDEFVRVWAEYDRAACGRIH1760
CACNA1FAYFISFFMLCAFLIINLFVAVIMDNFDYLT>R<DWSI-LGPHHLDEFKRIWSEYDPGAKGRIK1478
CACNA1GIYFVSFVLTAQFVLVNVVIAVLMKHLEESN>K<EAKE---EAELEAELELEMKT-LSPQPHSP1885
CACNA1HVYFVTFVLVAQFVLVNVVVAVLMKHLEESN>K<EARE---DAELDAEIELEMAQGPGSARRVD1895
CACNA1ILYFVSFVLTAQFVLINVVVAVLMKHLDDSN>K<EAQE---DAEMDAELELEMAHGLGPGPRLP1765
CACNA1SYYFISFYMLCAFLVINLFVAVIMDNFDYLT>R<DWSI-LGPHHLDEFKAIWAEYDPEAKGRIK1418
SCN10AIFFTTYIIISFLIMVNMYIAVILENFNVAT>E<ESTEPLSEDDFDMFYETWEKFDPEATQFIT1760
SCN11ASYFVSYIIISFLIVVNMYIAVILENFNTAT>E<ESEDPLGEDDFDIFYEVWEKFDPEATQFIK1642
SCN1AFFFVSYIIISFLVVVNMYIAVILENFSVAT>E<ESAEPLSEDDFEMFYEVWEKFDPDATQFME1824
SCN2AFFFVSYIIISFLVVVNMYIAVILENFSVAT>E<ESAEPLSEDDFEMFYEVWEKFDPDATQFIE1814
SCN3AFFFVSYIIISFLVVVNMYIAVILENFSVAT>E<ESAEPLSEDDFEMFYEVWEKFDPDATQFIE1809
SCN4ACFFCSYIIISFLIVVNMYIAIILENFNVAT>E<ESSEPLGEDDFEMFYETWEKFDPDATQFIA1636
SCN5ALFFTTYIIISFLIVVNMYIAIILENFSVAT>E<ESTEPLSEDDFDMFYEIWEKFDPEATQFIE1810
SCN7AFYFVSYILISWLIIVNMYIVVVMEFLNIAS>K<KKNKTLSEDDFRKFFQVWKRFDPDRTQYID1534
SCN8AFFFVSYIIISFLIVVNMYIAIILENFSVAT>E<ESADPLSEDDFETFYEIWEKFDPDATQFIE1804
SCN9AFYFVSYIIISFLVVVNMYIAVILENFSVAT>E<ESTEPLSEDDFEMFYEVWEKFDPDATQFIE1787
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1484 for CACNA1C.