Paralogue Annotation for CACNA1C residue 405

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 405
Reference Amino Acid: S - Serine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 405

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AA413TLong QT syndromeMedium9 16414944
SCN5AA413ELong QT syndromeMedium9 16414944

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.



CACNA1CAVGRDWPWIYFVTLIIIGSFFVLNLVLGVL>S<GEFSKEREKAKARGDFQKLREKQQLEEDLK435
CACNA1AASGNTWNWLYFIPLIIIGSFFMLNLVLGVL>S<GEFAKERERVENRRAFLKLRRQQQIERELN390
CACNA1BAAGNTWNWLYFIPLIIIGSFFMLNLVLGVL>S<GEFAKERERVENRRAFLKLRRQQQIERELN386
CACNA1DAIGWEWPWVYFVSLIILGSFFVLNLVLGVL>S<GEFSKEREKAKARGDFQKLREKQQLEEDLK436
CACNA1EALGATWNWLYFIPLIIIGSFFVLNLVLGVL>S<GEFAKERERVENRRAFMKLRRQQQIERELN381
CACNA1FAMGYELPWVYFVSLVIFGSFFVLNLVLGVL>S<GEFSKEREKAKARGDFQKQREKQQMEEDLR402
CACNA1GAHSF-YNFIYFILLIIVGSFFMINLCLVVI>A<TQFSETKQRESQLMREQRVRFLSNASTLAS425
CACNA1HAHSF-YNFIYFILLIIVGSFFMINLCLVVI>A<TQFSETKQRESQLMREQRARHLSNDSTLAS449
CACNA1IAHSF-YNFIYFILLIIVGSFFMINLCLVVI>A<TQFSETKQREHRLMLEQRQRYLS-SSTVAS427
CACNA1SAIGNEWPWIYFVTLILLGSFFILNLVLGVL>S<GEFTKEREKAKSRGTFQKLREKQQLDEDLR364
SCN10ATSGKIY-MIFFVLVIFLGSFYLVNLILAVV>T<MAYEEQNQATTDEIEAK-EKKFQEALEMLR426
SCN11ATTGLYS-VFFFIVVIFLGSFYLINLTLAVV>T<MAYEEQNKNVAAEIEAK-EKMFQEAQQLLK429
SCN1AAAGKTY-MIFFVLVIFLGSFYLINLILAVV>A<MAYEEQNQATLEEAEQK-EAEFQQMIEQLK452
SCN2AAAGKTY-MIFFVLVIFLGSFYLINLILAVV>A<MAYEEQNQATLEEAEQK-EAEFQQMLEQLK454
SCN3AAAGKTY-MIFFVLVIFLGSFYLVNLILAVV>A<MAYEEQNQATLEEAEQK-EAEFQQMLEQLK453
SCN4AAAGKTY-MIFFVVIIFLGSFYLINLILAVV>A<MAYAEQNEATLAEDKEK-EEEFQQMLEKFK476
SCN5ASAGKIY-MIFFMLVIFLGSFYLVNLILAVV>A<MAYEEQNQATIAETEEK-EKRFQEAMEMLK442
SCN7AASGKVY-MIFFVVVSFLFSFYMASLFLGIL>A<MAYEEEKQRVGEISKKI-EPKFQQTGKELQ423
SCN8AAAGKTY-MIFFVLVIFVGSFYLVNLILAVV>A<MAYEEQNQATLEEAEQK-EAEFKAMLEQLK440
SCN9AAAGKTY-MIFFVVVIFLGSFYLINLILAVV>A<MAYEEQNQANIEEAKQK-ELEFQQMLDRLK431
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 405 for CACNA1C.