Paralogue Annotation for CACNA1C residue 1424

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1424
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1424

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP1732LDravet syndromeMedium9 27465585

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.



CACNA1CNRNNNFQTFPQAVLLLFRCATGEAWQDIML>A<CMPG--KKCAPESEP-SNSTEGETP--CGS1449
CACNA1ATEHNNFRTFFQALMLLFRSATGEAWHNIML>S<CLSG--KPCDKNSGIL-----T-R--ECGN1784
CACNA1BNRHNNFRTFLQALMLLFRSATGEAWHEIML>S<CLSN--QACDE---Q------A-NATECGS1682
CACNA1DNRNNNFQTFPQAVLLLFRCATGEAWQEIML>A<CLPG--KLCDPESDY--NPGE-EYT--CGS1457
CACNA1ENRHNNFRSFFGSLMLLFRSATGEAWQEIML>S<CLGE--KGCEPDTTAPSGQNEN-E--RCGT1696
CACNA1FNRNNNFQTFPQAVLLLFRCATGEAWQEIML>A<SLPG--NRCDPESDF--GPGE-EFT--CGS1414
CACNA1GGRHATFRNFGMAFLTLFRVSTGDNWNGIMK>D<TLRD----CDQEST-----C-------YNT1824
CACNA1HSRHATFSNFGMAFLTLFRVSTGDNWNGIMK>D<TLRE----CSREDKH----C---LS--YLP1833
CACNA1ISRHATFENFGMAFLTLFQVSTGDNWNGIMK>D<TLRD----CTHDERS----C---LS--SLQ1703
CACNA1SNRNNNFQTFPQAVLLLFRCATGEAWQEILL>A<CSYG--KLCDPESDY--APGE-EYT--CGT1354
SCN10ADDMFNFQTFANSMLCLFQITTSAGWDGLLS>P<ILNTGPPYCDPNLPN-S-NGTRGD---CGS1694
SCN11ADDIFNFKTFASSMLCLFQISTSAGWDSLLS>P<MLRSKES-CN---------SSSEN---CHL1576
SCN1ADDMFNFETFGNSMICLFQITTSAGWDGLLA>P<ILNSKPPDCDPNKVN-PGSSVKGD---CGN1758
SCN2ADDMFNFETFGNSMICLFQITTSAGWDGLLA>P<ILNSGPPDCDPDKDH-PGSSVKGD---CGN1748
SCN3ADDMFNFETFGNSMICLFQITTSAGWDGLLA>P<ILNSAPPDCDPDTIH-PGSSVKGD---CGN1743
SCN4ADDMFNFETFGNSIICLFEITTSAGWDGLLN>P<ILNSGPPDCDPNLEN-PGTSVKGD---CGN1570
SCN5ADDMFNFQTFANSMLCLFQITTSAGWDGLLS>P<ILNTGPPYCDPTLPN-S-NGSRGD---CGS1744
SCN7ANDVSNFETFGNSMLCLFQVAIFAGWDGMLD>A<IFNSKWSDCDPDKIN-PGTQVRGD---CGN1468
SCN8ADDMFNFETFGNSMICLFQITTSAGWDGLLL>P<ILN-RPPDCSLDKEH-PGSGFKGD---CGN1738
SCN9ANDMFNFETFGNSMICLFQITTSAGWDGLLA>P<ILNSKPPDCDPKKVH-PGSSVEGD---CGN1721
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1424 for CACNA1C.