Paralogue Annotation for CACNA1C residue 1300

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1300
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1300

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AL1433RHyperkalaemic periodic paralysisMedium9 8388676, 7809121

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.



CACNA1CLIAFKPKHYFCDAWNTFDALIVVGSIVDIA>I<TEVNPAE----HTQ----CSPSMNAEENSR1322
CACNA1AVMAFGILNYFRDAWNIFDFVTVLGSITDIL>V<TEFGNN-----------------------F1654
CACNA1BIIAFGVLNYFRDAWNVFDFVTVLGSITDIL>V<TEIAET---------------------NNF1562
CACNA1DVIAFKPKGYFSDAWNTFDSLIVIGSIIDVA>L<SEADPTE----SENVPVPTATPGNSEESNR1332
CACNA1EVIAFGFLNYFRDTWNIFDFITVIGSITEII>L<TDSKLV--------------------NTSG1569
CACNA1FIIAFKPKHYFTDAWNTFDALIVVGSIVDIA>V<TEVNNGG----HLG----E----SSEDSSR1289
CACNA1GLVAFGFRRFFQDRWNQLDLAIVLLSIMGIT>L<EEIEVN--------------------ASLP1702
CACNA1HLVAFGFRRFFKDRWNQLDLAIVLLSLMGIT>L<EEIEMS--------------------AALP1708
CACNA1ILVAFGLRRFFKDRWNQLDLAIVLLSVMGIT>L<EEIEIN--------------------AALP1578
CACNA1SLMAFKARGYFGDPWNVFDFLIVIGSIIDVI>L<SEIDTFLASSGGLYCLGGGCGNVDPDESAR1229
SCN10AMFALR-QYYFTNGWNVFDFIVVVLSIASLI>F<SAILKS--------------------LQSY1566
SCN11AIFALR-QYYFTNGWNLFDCVVVLLSIVSTM>I<STLENQ--------------------EHIP1456
SCN1ALISLR-HYYFTIGWNIFDFVVVILSIVGMF>L<AELIE----------------------KYF1629
SCN2ALISLR-YYYFTIGWNIFDFVVVILSIVGMF>L<AELIE----------------------KYF1619
SCN3ALVSLR-HYYFTIGWNIFDFVVVILSIVGMF>L<AEMIE----------------------KYF1614
SCN4AMLALR-QYYFTVGWNIFDFVVVILSIVGLA>L<SDLIQ----------------------KYF1441
SCN5ALAALR-HYYFTNSWNIFDFVVVILSIVGTV>L<SDIIQ----------------------KYF1616
SCN7ALIAFR-CFYFTIAWNIFDFMVVIFSITGLC>L<PMTVG----------------------SYL1339
SCN8AMFALR-HYYFTIGWNIFDFVVVILSIVGMF>L<ADIIE----------------------KYF1610
SCN9ALISLR-HYYFTVGWNIFDFVVVIISIVGMF>L<ADLIE----------------------TYF1592
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1300 for CACNA1C.