Paralogue Annotation for CACNA1C residue 1529

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1529
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1529

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AR1826CAtrial fibrillation ?Medium7 18378609
SCN5AR1826HSudden infant death syndromeMedium7 11710892, 23465283, 24055113, 25637381
CACNA1FG1494RNight blindness, congenital stationary, incompleteHigh7 25307992

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.



CACNA1CRIWAEYDPEAKGRIKHLDVVTLLRRIQPPL>G<--FGKLCPHRVACKRLVSMNMPLNSDG-TV1556
CACNA1ARVWAEYDPAACGRIHYKDMYSLLRVISPPL>G<--LGKKCPHRVACKRLLRMDLPVADD-NTV1891
CACNA1BRVWAEYDPAACGRISYNDMFEMLKHMSPPL>G<--LGKKCPARVAYKRLVRMNMPISNEDMTV1790
CACNA1DRIWSEYDPEAKGRIKHLDVVTLLRRIQPPL>G<--FGKLCPHRVACKRLVAMNMPLNSDG-TV1564
CACNA1ERVWAEYDRAACGRIHYTEMYEMLTLMSPPL>G<--LGKRCPSKVAYKRLVLMNMPVAED-MTV1803
CACNA1FRIWSEYDPGAKGRIKHLDVVALLRRIQPPL>G<--FGKLCPHRVACKRLVAMNMPLNSDG-TV1521
CACNA1GELEMKT-LSPQPHSPLGSPF-LWPGVEGPD>S<--PDSPKPGAL---------HPAAHA-RSA1918
CACNA1HELEMAQGPGSARRVDADRP---------PL>P<--QESPG--AR--------DAPN-------1913
CACNA1IELEMAHGLGPGPRLPTGSPGAPGR---GPG>G<AGGGGDT--EG---GLCRRCYSPAQE-N--1800
CACNA1SAIWAEYDPEAKGRIKHLDVVTLLRRIQPPL>G<--FGKFCPHRVACKRLVGMNMPLNSDG-TV1461
SCN10AETWEKFDPEATQFITFSALSDFADTLSGPL>R<--IPK--PNRN---ILIQMDLPLVPGD-KI1798
SCN11AEVWEKFDPEATQFIKYSALSDFADALPEPL>R<--VAK--PNKY---QFLVMDLPMVSED-RL1680
SCN1AEVWEKFDPDATQFMEFEKLSQFAAALEPPL>N<--LPQ--PNKL---QLIAMDLPMVSGD-RI1862
SCN2AEVWEKFDPDATQFIEFAKLSDFADALDPPL>L<--IAK--PNKV---QLIAMDLPMVSGD-RI1852
SCN3AEVWEKFDPDATQFIEFSKLSDFAAALDPPL>L<--IAK--PNKV---QLIAMDLPMVSGD-RI1847
SCN4AETWEKFDPDATQFIAYSRLSDFVDTLQEPL>R<--IAK--PNKI---KLITLDLPMVPGD-KI1674
SCN5AEIWEKFDPEATQFIEYSVLSDFADALSEPL>R<--IAK--PNQI---SLINMDLPMVSGD-RI1848
SCN7AQVWKRFDPDRTQYIDSSKLSDFAAALDPPL>F<--MAK--PNKG---QLIALDLPMAVGD-RI1572
SCN8AEIWEKFDPDATQFIEYCKLADFADALEHPL>R<--VPK--PNTI---ELIAMDLPMVSGD-RI1842
SCN9AEVWEKFDPDATQFIEFSKLSDFAAALDPPL>L<--IAK--PNKV---QLIAMDLPMVSGD-RI1825
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1529 for CACNA1C.