Paralogue Annotation for CACNA1C residue 1569

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1569
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1569

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1861IBrugada syndromeMedium8 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.



CACNA1CCKRLVSMNMPLNSDG-TVMFNATLFALVRT>A<LRIKTEG---NLEQANEELRAIIKKIW-KR1595
CACNA1ACKRLLRMDLPVADD-NTVHFNSTLMALIRT>A<LDIKIAKGGADKQQMDAELRKEMMAIW-PN1933
CACNA1BYKRLVRMNMPISNEDMTVHFTSTLMALIRT>A<LEIKLAPAGTKQHQCDAELRKEISVVW-AN1832
CACNA1DCKRLVAMNMPLNSDG-TVMFNATLFALVRT>A<LKIKTEG---NLEQANEELRAVIKKIW-KK1603
CACNA1EYKRLVLMNMPVAED-MTVHFTSTLMALIRT>A<LDIKIAKGGADRQQLDSELQKETLAIW-PH1845
CACNA1FCKRLVAMNMPLNSDG-TVTFNATLFALVRT>S<LKIKTEG---NLEQANQELRIVIKKIW-KR1560
CACNA1G--------HPAAHA-RSASHFSLEHPTDRQ>L<FDTI---S--LLIQGSLEWELKLMDEL-AG1955
CACNA1H-------DAPN---------------LVAR>K<V----------------SVSRML-SLPNDS1931
CACNA1I--GLCRRCYSPAQE-N--LWLDSVSLIIKD>S<L----------------EGELTIIDNL-SG1826
CACNA1SCKRLVGMNMPLNSDG-TVTFNATLFALVRT>A<LKIKTEG---NFEQANEELRAIIKKIW-KR1500
SCN10A--ILIQMDLPLVPGD-KIHCLDILFAFTKN>V<LGES--G---ELDSLKANMEEKFMA---TN1833
SCN11A--QFLVMDLPMVSED-RLHCMDILFAFTAR>V<LGGS--D---GLDSMKAMMEEKFME---AN1715
SCN1A--QLIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGES--G---EMDALRIQMEERFMA---SN1897
SCN2A--QLIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGES--G---EMDALRIQMEERFMA---SN1887
SCN3A--QLIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGES--G---EMDALRIQMEDRFMA---SN1882
SCN4A--KLITLDLPMVPGD-KIHCLDILFALTKE>V<LGDS--G---EMDALKQTMEEKFMA---AN1709
SCN5A--SLINMDLPMVSGD-RIHCMDILFAFTKR>V<LGES--G---EMDALKIQMEEKFMA---AN1883
SCN7A--QLIALDLPMAVGD-RIHCLDILLAFTKR>V<MGQD--V---RMEKVVSEIESGFLL---AN1607
SCN8A--ELIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGDS--G---ELDILRQQMEERFVA---SN1877
SCN9A--QLIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGES--G---EMDSLRSQMEERFMS---AN1860
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1569 for CACNA1C.