Paralogue Annotation for CACNA1C residue 1535

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1535
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1535

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FP1500RNight blindness, congenital stationary, incompleteHigh5 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.



CACNA1CEAKGRIKHLDVVTLLRRIQPPLG--FGKLC>P<HRVACKRLVSMNMPLNSDG-TVMFNATLFA1564
CACNA1AAACGRIHYKDMYSLLRVISPPLG--LGKKC>P<HRVACKRLLRMDLPVADD-NTVHFNSTLMA1899
CACNA1BAACGRISYNDMFEMLKHMSPPLG--LGKKC>P<ARVAYKRLVRMNMPISNEDMTVHFTSTLMA1798
CACNA1DEAKGRIKHLDVVTLLRRIQPPLG--FGKLC>P<HRVACKRLVAMNMPLNSDG-TVMFNATLFA1572
CACNA1EAACGRIHYTEMYEMLTLMSPPLG--LGKRC>P<SKVAYKRLVLMNMPVAED-MTVHFTSTLMA1811
CACNA1FGAKGRIKHLDVVALLRRIQPPLG--FGKLC>P<HRVACKRLVAMNMPLNSDG-TVTFNATLFA1529
CACNA1GSPQPHSPLGSPF-LWPGVEGPDS--PDSPK>P<GAL---------HPAAHA-RSASHFSLEHP1926
CACNA1HGSARRVDADRP---------PLP--QESPG>-<-AR--------DAPN---------------1913
CACNA1IGPGPRLPTGSPGAPGR---GPGGAGGGGDT>-<-EG---GLCRRCYSPAQE-N--LWLDSVSL1808
CACNA1SEAKGRIKHLDVVTLLRRIQPPLG--FGKFC>P<HRVACKRLVGMNMPLNSDG-TVTFNATLFA1469
SCN10AEATQFITFSALSDFADTLSGPLR--IPK-->P<NRN---ILIQMDLPLVPGD-KIHCLDILFA1806
SCN11AEATQFIKYSALSDFADALPEPLR--VAK-->P<NKY---QFLVMDLPMVSED-RLHCMDILFA1688
SCN1ADATQFMEFEKLSQFAAALEPPLN--LPQ-->P<NKL---QLIAMDLPMVSGD-RIHCLDILFA1870
SCN2ADATQFIEFAKLSDFADALDPPLL--IAK-->P<NKV---QLIAMDLPMVSGD-RIHCLDILFA1860
SCN3ADATQFIEFSKLSDFAAALDPPLL--IAK-->P<NKV---QLIAMDLPMVSGD-RIHCLDILFA1855
SCN4ADATQFIAYSRLSDFVDTLQEPLR--IAK-->P<NKI---KLITLDLPMVPGD-KIHCLDILFA1682
SCN5AEATQFIEYSVLSDFADALSEPLR--IAK-->P<NQI---SLINMDLPMVSGD-RIHCMDILFA1856
SCN7ADRTQYIDSSKLSDFAAALDPPLF--MAK-->P<NKG---QLIALDLPMAVGD-RIHCLDILLA1580
SCN8ADATQFIEYCKLADFADALEHPLR--VPK-->P<NTI---ELIAMDLPMVSGD-RIHCLDILFA1850
SCN9ADATQFIEFSKLSDFAAALDPPLL--IAK-->P<NKV---QLIAMDLPMVSGD-RIHCLDILFA1833
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1535 for CACNA1C.