Paralogue Annotation for CACNA1C residue 1305

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1305
Reference Amino Acid: P - Proline
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1305

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AQ1613LBrugada syndromeMedium4 20129283

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.



CACNA1CPKHYFCDAWNTFDALIVVGSIVDIAITEVN>P<AE----HTQ----CSPSMNAEENSRISITF1327
CACNA1AILNYFRDAWNIFDFVTVLGSITDILVTEFG>N<N-----------------------FINLSF1659
CACNA1BVLNYFRDAWNVFDFVTVLGSITDILVTEIA>E<T---------------------NNFINLSF1567
CACNA1DPKGYFSDAWNTFDSLIVIGSIIDVALSEAD>P<TE----SENVPVPTATPGNSEESNRISITF1337
CACNA1EFLNYFRDTWNIFDFITVIGSITEIILTDSK>L<V--------------------NTSGFNMSF1574
CACNA1FPKHYFTDAWNTFDALIVVGSIVDIAVTEVN>N<GG----HLG----E----SSEDSSRISITF1294
CACNA1GFRRFFQDRWNQLDLAIVLLSIMGITLEEIE>V<N--------------------ASLPINPTI1707
CACNA1HFRRFFKDRWNQLDLAIVLLSLMGITLEEIE>M<S--------------------AALPINPTI1713
CACNA1ILRRFFKDRWNQLDLAIVLLSVMGITLEEIE>I<N--------------------AALPINPTI1583
CACNA1SARGYFGDPWNVFDFLIVIGSIIDVILSEID>T<FLASSGGLYCLGGGCGNVDPDESARISSAF1234
SCN10A-QYYFTNGWNVFDFIVVVLSIASLIFSAIL>K<S--------------------LQSYFSPTL1571
SCN11A-QYYFTNGWNLFDCVVVLLSIVSTMISTLE>N<Q--------------------EHIPFPPTL1461
SCN1A-HYYFTIGWNIFDFVVVILSIVGMFLAELI>E<----------------------KYFVSPTL1634
SCN2A-YYYFTIGWNIFDFVVVILSIVGMFLAELI>E<----------------------KYFVSPTL1624
SCN3A-HYYFTIGWNIFDFVVVILSIVGMFLAEMI>E<----------------------KYFVSPTL1619
SCN4A-QYYFTVGWNIFDFVVVILSIVGLALSDLI>Q<----------------------KYFVSPTL1446
SCN5A-HYYFTNSWNIFDFVVVILSIVGTVLSDII>Q<----------------------KYFFSPTL1621
SCN7A-CFYFTIAWNIFDFMVVIFSITGLCLPMTV>G<----------------------SYLVPPSL1344
SCN8A-HYYFTIGWNIFDFVVVILSIVGMFLADII>E<----------------------KYFVSPTL1615
SCN9A-HYYFTVGWNIFDFVVVIISIVGMFLADLI>E<----------------------TYFVSPTL1597
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1305 for CACNA1C.