Paralogue Annotation for CACNA1C residue 395

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 395
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 395

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY413NMyoclonic epilepsy of infancyMedium9 17347258, 23895530

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.



CACNA1CWTDVLYWVNDAVGRDWPWIYFVTLIIIGSF>F<VLNLVLGVLSGEFSKEREKAKARGDFQKLR425
CACNA1AWTDLLYNSNDASGNTWNWLYFIPLIIIGSF>F<MLNLVLGVLSGEFAKERERVENRRAFLKLR380
CACNA1BWTDILYNTNDAAGNTWNWLYFIPLIIIGSF>F<MLNLVLGVLSGEFAKERERVENRRAFLKLR376
CACNA1DWTDVLYWVNDAIGWEWPWVYFVSLIILGSF>F<VLNLVLGVLSGEFSKEREKAKARGDFQKLR426
CACNA1EWTTVLYNTNDALGATWNWLYFIPLIIIGSF>F<VLNLVLGVLSGEFAKERERVENRRAFMKLR371
CACNA1FWTDVLYWMQDAMGYELPWVYFVSLVIFGSF>F<VLNLVLGVLSGEFSKEREKAKARGDFQKQR392
CACNA1GWVDIMYFVMDAHSF-YNFIYFILLIIVGSF>F<MINLCLVVIATQFSETKQRESQLMREQRVR415
CACNA1HWVDIMYYVMDAHSF-YNFIYFILLIIVGSF>F<MINLCLVVIATQFSETKQRESQLMREQRAR439
CACNA1IWVEIMYYVMDAHSF-YNFIYFILLIIVGSF>F<MINLCLVVIATQFSETKQREHRLMLEQRQR418
CACNA1SWTDVLYWVNDAIGNEWPWIYFVTLILLGSF>F<ILNLVLGVLSGEFTKEREKAKSRGTFQKLR354
SCN10AWERLYQQTLRTSGKIY-MIFFVLVIFLGSF>Y<LVNLILAVVTMAYEEQNQATTDEIEAK-EK416
SCN11AWEKLYQQTLRTTGLYS-VFFFIVVIFLGSF>Y<LINLTLAVVTMAYEEQNKNVAAEIEAK-EK419
SCN1AWENLYQLTLRAAGKTY-MIFFVLVIFLGSF>Y<LINLILAVVAMAYEEQNQATLEEAEQK-EA442
SCN2AWENLYQLTLRAAGKTY-MIFFVLVIFLGSF>Y<LINLILAVVAMAYEEQNQATLEEAEQK-EA444
SCN3AWENLYQLTLRAAGKTY-MIFFVLVIFLGSF>Y<LVNLILAVVAMAYEEQNQATLEEAEQK-EA443
SCN4AWENLFQLTLRAAGKTY-MIFFVVIIFLGSF>Y<LINLILAVVAMAYAEQNEATLAEDKEK-EE466
SCN5AWERLYQQTLRSAGKIY-MIFFMLVIFLGSF>Y<LVNLILAVVAMAYEEQNQATIAETEEK-EK432
SCN7APEVLYHQILYASGKVY-MIFFVVVSFLFSF>Y<MASLFLGILAMAYEEEKQRVGEISKKI-EP413
SCN8AWENLYQLTLRAAGKTY-MIFFVLVIFVGSF>Y<LVNLILAVVAMAYEEQNQATLEEAEQK-EA430
SCN9AWENLYQQTLRAAGKTY-MIFFVVVIFLGSF>Y<LINLILAVVAMAYEEQNQANIEEAKQK-EL421
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 395 for CACNA1C.