Paralogue Annotation for CACNA1C residue 1301

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1301
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1301

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AS1609WLong QT syndromeMedium9 16922724
SCN4AS1434PMyotonia, non-dystrophicMedium9 23771340
SCN5AS1609LSudden infant death syndromeMedium9 25757662, 25757662

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.



CACNA1CIAFKPKHYFCDAWNTFDALIVVGSIVDIAI>T<EVNPAE----HTQ----CSPSMNAEENSRI1323
CACNA1AMAFGILNYFRDAWNIFDFVTVLGSITDILV>T<EFGNN-----------------------FI1655
CACNA1BIAFGVLNYFRDAWNVFDFVTVLGSITDILV>T<EIAET---------------------NNFI1563
CACNA1DIAFKPKGYFSDAWNTFDSLIVIGSIIDVAL>S<EADPTE----SENVPVPTATPGNSEESNRI1333
CACNA1EIAFGFLNYFRDTWNIFDFITVIGSITEIIL>T<DSKLV--------------------NTSGF1570
CACNA1FIAFKPKHYFTDAWNTFDALIVVGSIVDIAV>T<EVNNGG----HLG----E----SSEDSSRI1290
CACNA1GVAFGFRRFFQDRWNQLDLAIVLLSIMGITL>E<EIEVN--------------------ASLPI1703
CACNA1HVAFGFRRFFKDRWNQLDLAIVLLSLMGITL>E<EIEMS--------------------AALPI1709
CACNA1IVAFGLRRFFKDRWNQLDLAIVLLSVMGITL>E<EIEIN--------------------AALPI1579
CACNA1SMAFKARGYFGDPWNVFDFLIVIGSIIDVIL>S<EIDTFLASSGGLYCLGGGCGNVDPDESARI1230
SCN10AFALR-QYYFTNGWNVFDFIVVVLSIASLIF>S<AILKS--------------------LQSYF1567
SCN11AFALR-QYYFTNGWNLFDCVVVLLSIVSTMI>S<TLENQ--------------------EHIPF1457
SCN1AISLR-HYYFTIGWNIFDFVVVILSIVGMFL>A<ELIE----------------------KYFV1630
SCN2AISLR-YYYFTIGWNIFDFVVVILSIVGMFL>A<ELIE----------------------KYFV1620
SCN3AVSLR-HYYFTIGWNIFDFVVVILSIVGMFL>A<EMIE----------------------KYFV1615
SCN4ALALR-QYYFTVGWNIFDFVVVILSIVGLAL>S<DLIQ----------------------KYFV1442
SCN5AAALR-HYYFTNSWNIFDFVVVILSIVGTVL>S<DIIQ----------------------KYFF1617
SCN7AIAFR-CFYFTIAWNIFDFMVVIFSITGLCL>P<MTVG----------------------SYLV1340
SCN8AFALR-HYYFTIGWNIFDFVVVILSIVGMFL>A<DIIE----------------------KYFV1611
SCN9AISLR-HYYFTVGWNIFDFVVVIISIVGMFL>A<DLIE----------------------TYFV1593
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1301 for CACNA1C.