Paralogue Annotation for CACNA1C residue 1543

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1543
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1543

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FL1508PNight blindness, congenital stationary, incompleteHigh9 12111638

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.



CACNA1CLDVVTLLRRIQPPLG--FGKLCPHRVACKR>L<VSMNMPLNSDG-TVMFNATLFALVRTALRI1572
CACNA1AKDMYSLLRVISPPLG--LGKKCPHRVACKR>L<LRMDLPVADD-NTVHFNSTLMALIRTALDI1907
CACNA1BNDMFEMLKHMSPPLG--LGKKCPARVAYKR>L<VRMNMPISNEDMTVHFTSTLMALIRTALEI1806
CACNA1DLDVVTLLRRIQPPLG--FGKLCPHRVACKR>L<VAMNMPLNSDG-TVMFNATLFALVRTALKI1580
CACNA1ETEMYEMLTLMSPPLG--LGKRCPSKVAYKR>L<VLMNMPVAED-MTVHFTSTLMALIRTALDI1819
CACNA1FLDVVALLRRIQPPLG--FGKLCPHRVACKR>L<VAMNMPLNSDG-TVTFNATLFALVRTSLKI1537
CACNA1GGSPF-LWPGVEGPDS--PDSPKPGAL---->-<----HPAAHA-RSASHFSLEHPTDRQLFDT1934
CACNA1HDRP---------PLP--QESPG--AR---->-<---DAPN---------------LVARKV--1919
CACNA1IGSPGAPGR---GPGGAGGGGDT--EG---G>L<CRRCYSPAQE-N--LWLDSVSLIIKDSL--1814
CACNA1SLDVVTLLRRIQPPLG--FGKFCPHRVACKR>L<VGMNMPLNSDG-TVTFNATLFALVRTALKI1477
SCN10ASALSDFADTLSGPLR--IPK--PNRN---I>L<IQMDLPLVPGD-KIHCLDILFAFTKNVLGE1814
SCN11ASALSDFADALPEPLR--VAK--PNKY---Q>F<LVMDLPMVSED-RLHCMDILFAFTARVLGG1696
SCN1AEKLSQFAAALEPPLN--LPQ--PNKL---Q>L<IAMDLPMVSGD-RIHCLDILFAFTKRVLGE1878
SCN2AAKLSDFADALDPPLL--IAK--PNKV---Q>L<IAMDLPMVSGD-RIHCLDILFAFTKRVLGE1868
SCN3ASKLSDFAAALDPPLL--IAK--PNKV---Q>L<IAMDLPMVSGD-RIHCLDILFAFTKRVLGE1863
SCN4ASRLSDFVDTLQEPLR--IAK--PNKI---K>L<ITLDLPMVPGD-KIHCLDILFALTKEVLGD1690
SCN5ASVLSDFADALSEPLR--IAK--PNQI---S>L<INMDLPMVSGD-RIHCMDILFAFTKRVLGE1864
SCN7ASKLSDFAAALDPPLF--MAK--PNKG---Q>L<IALDLPMAVGD-RIHCLDILLAFTKRVMGQ1588
SCN8ACKLADFADALEHPLR--VPK--PNTI---E>L<IAMDLPMVSGD-RIHCLDILFAFTKRVLGD1858
SCN9ASKLSDFAAALDPPLL--IAK--PNKV---Q>L<IAMDLPMVSGD-RIHCLDILFAFTKRVLGE1841
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1543 for CACNA1C.