Paralogue Annotation for CACNA1C residue 1427

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1427
Reference Amino Acid: P - Proline
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1427

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AN1722DBrugada syndromeMedium7 20031634

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.



CACNA1CNNFQTFPQAVLLLFRCATGEAWQDIMLACM>P<G--KKCAPESEP-SNSTEGETP--CGS-SF1451
CACNA1ANNFRTFFQALMLLFRSATGEAWHNIMLSCL>S<G--KPCDKNSGIL-----T-R--ECGN-EF1786
CACNA1BNNFRTFLQALMLLFRSATGEAWHEIMLSCL>S<N--QACDE---Q------A-NATECGS-DF1684
CACNA1DNNFQTFPQAVLLLFRCATGEAWQEIMLACL>P<G--KLCDPESDY--NPGE-EYT--CGS-NF1459
CACNA1ENNFRSFFGSLMLLFRSATGEAWQEIMLSCL>G<E--KGCEPDTTAPSGQNEN-E--RCGT-DL1698
CACNA1FNNFQTFPQAVLLLFRCATGEAWQEIMLASL>P<G--NRCDPESDF--GPGE-EFT--CGS-NF1416
CACNA1GATFRNFGMAFLTLFRVSTGDNWNGIMKDTL>R<D----CDQEST-----C-------YNT-VI1826
CACNA1HATFSNFGMAFLTLFRVSTGDNWNGIMKDTL>R<E----CSREDKH----C---LS--YLP-AL1835
CACNA1IATFENFGMAFLTLFQVSTGDNWNGIMKDTL>R<D----CTHDERS----C---LS--SLQ-FV1705
CACNA1SNNFQTFPQAVLLLFRCATGEAWQEILLACS>Y<G--KLCDPESDY--APGE-EYT--CGT-NF1356
SCN10AFNFQTFANSMLCLFQITTSAGWDGLLSPIL>N<TGPPYCDPNLPN-S-NGTRGD---CGSPAV1697
SCN11AFNFKTFASSMLCLFQISTSAGWDSLLSPML>R<SKES-CN---------SSSEN---CHLPGI1579
SCN1AFNFETFGNSMICLFQITTSAGWDGLLAPIL>N<SKPPDCDPNKVN-PGSSVKGD---CGNPSV1761
SCN2AFNFETFGNSMICLFQITTSAGWDGLLAPIL>N<SGPPDCDPDKDH-PGSSVKGD---CGNPSV1751
SCN3AFNFETFGNSMICLFQITTSAGWDGLLAPIL>N<SAPPDCDPDTIH-PGSSVKGD---CGNPSV1746
SCN4AFNFETFGNSIICLFEITTSAGWDGLLNPIL>N<SGPPDCDPNLEN-PGTSVKGD---CGNPSI1573
SCN5AFNFQTFANSMLCLFQITTSAGWDGLLSPIL>N<TGPPYCDPTLPN-S-NGSRGD---CGSPAV1747
SCN7ASNFETFGNSMLCLFQVAIFAGWDGMLDAIF>N<SKWSDCDPDKIN-PGTQVRGD---CGNPSV1471
SCN8AFNFETFGNSMICLFQITTSAGWDGLLLPIL>N<-RPPDCSLDKEH-PGSGFKGD---CGNPSV1741
SCN9AFNFETFGNSMICLFQITTSAGWDGLLAPIL>N<SKPPDCDPKKVH-PGSSVEGD---CGNPSV1724
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1427 for CACNA1C.