Paralogue Annotation for CACNA1C residue 390

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 390
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 390

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF408LEpilepsy, idiopathic Medium9 21703448

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.



CACNA1CITMEGWTDVLYWVNDAVGRDWPWIYFVTLI>I<IGSFFVLNLVLGVLSGEFSKEREKAKARGD420
CACNA1AITMEGWTDLLYNSNDASGNTWNWLYFIPLI>I<IGSFFMLNLVLGVLSGEFAKERERVENRRA375
CACNA1BITMEGWTDILYNTNDAAGNTWNWLYFIPLI>I<IGSFFMLNLVLGVLSGEFAKERERVENRRA371
CACNA1DITMEGWTDVLYWVNDAIGWEWPWVYFVSLI>I<LGSFFVLNLVLGVLSGEFSKEREKAKARGD421
CACNA1EITMEGWTTVLYNTNDALGATWNWLYFIPLI>I<IGSFFVLNLVLGVLSGEFAKERERVENRRA366
CACNA1FVTMEGWTDVLYWMQDAMGYELPWVYFVSLV>I<FGSFFVLNLVLGVLSGEFSKEREKAKARGD387
CACNA1GITLEGWVDIMYFVMDAHSF-YNFIYFILLI>I<VGSFFMINLCLVVIATQFSETKQRESQLMR410
CACNA1HITLEGWVDIMYYVMDAHSF-YNFIYFILLI>I<VGSFFMINLCLVVIATQFSETKQRESQLMR434
CACNA1IITLEGWVEIMYYVMDAHSF-YNFIYFILLI>I<VGSFFMINLCLVVIATQFSETKQREHRLML413
CACNA1SITMEGWTDVLYWVNDAIGNEWPWIYFVTLI>L<LGSFFILNLVLGVLSGEFTKEREKAKSRGT349
SCN10AMTQDSWERLYQQTLRTSGKIY-MIFFVLVI>F<LGSFYLVNLILAVVTMAYEEQNQATTDEIE412
SCN11AMTQDSWEKLYQQTLRTTGLYS-VFFFIVVI>F<LGSFYLINLTLAVVTMAYEEQNKNVAAEIE415
SCN1AMTQDFWENLYQLTLRAAGKTY-MIFFVLVI>F<LGSFYLINLILAVVAMAYEEQNQATLEEAE438
SCN2AMTQDFWENLYQLTLRAAGKTY-MIFFVLVI>F<LGSFYLINLILAVVAMAYEEQNQATLEEAE440
SCN3AMTQDYWENLYQLTLRAAGKTY-MIFFVLVI>F<LGSFYLVNLILAVVAMAYEEQNQATLEEAE439
SCN4AMTQDYWENLFQLTLRAAGKTY-MIFFVVII>F<LGSFYLINLILAVVAMAYAEQNEATLAEDK462
SCN5AMTQDCWERLYQQTLRSAGKIY-MIFFMLVI>F<LGSFYLVNLILAVVAMAYEEQNQATIAETE428
SCN7AMAQDYPEVLYHQILYASGKVY-MIFFVVVS>F<LFSFYMASLFLGILAMAYEEEKQRVGEISK409
SCN8AMTQDYWENLYQLTLRAAGKTY-MIFFVLVI>F<VGSFYLVNLILAVVAMAYEEQNQATLEEAE426
SCN9AMTQDYWENLYQQTLRAAGKTY-MIFFVVVI>F<LGSFYLINLILAVVAMAYEEQNQANIEEAK417
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 390 for CACNA1C.