Paralogue Annotation for CACNA1C residue 1089

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1089
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1089

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FR1060WNight blindness, congenital stationary, incompleteHigh7 9662399, 17949918
SCN1AA1406TDravet syndromeMedium7 21868258

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.



CACNA1CSKQTEAECKGNYITYKDGEVDHP-IIQ--P>R<SWENSKFDFDNVLAAMMALFTVSTFEGWPE1119
CACNA1ASKEFEKDCRGKYLLYEKNEVK----AR--D>R<EWKKYEFHYDNVLWALLTLFTVSTGEGWPQ1464
CACNA1BSKELERDCRGQYLDYEKEEVE----AQ--P>R<QWKKYDFHYDNVLWALLTLFTVSTGEGWPM1370
CACNA1DAKSNPEECRGLFILYKDGDVDSP-VVR--E>R<IWQNSDFNFDNVLSAMMALFTVSTFEGWPA1125
CACNA1ESKDTEKECIGNYVDHEKNKME----VK--G>R<EWKRHEFHYDNIIWALLTLFTVSTGEGWPQ1376
CACNA1FAKHTPQECKGSFLVYPDGDVSRP-LVR--E>R<LWVNSDFNFDNVLSAMMALFTVSTFEGWPA1090
CACNA1GD---------TRNITNKSDCA----EA--S>Y<RWVRHKYNFDNLGQALMSLFVLASKDGWVD1490
CACNA1HD---------TRNISTKAQCR----AA--H>Y<RWVRRKYNFDNLGQALMSLFVLSSKDGWVN1508
CACNA1ID---------TRNITNRSDCM----AA--N>Y<RWVHHKYNFDNLGQALMSLFVLASKDGWVN1384
CACNA1SSKMTEEECRGYYYVYKDGDPMQI-ELR--H>R<EWVHSDFHFDNVLSAMMSLFTVSTFEGWPQ1018
SCN10ATDGEF-SLVPLSIVNNKSDCKIQNSTGS-->F<FWVNVKVNFDNVAMGYLALLQVATFKGWMD1371
SCN11ATDSVI----NYTIITNKSQCESGN------>F<SWINQKVNFDNVGNAYLALLQVATFKGWMD1261
SCN1ATTGDR---FDIEDVNNHTDCLKLIERNET->A<RWKNVKVNFDNVGFGYLSLLQVATFKGWMD1436
SCN2ATTGEM---FDVSVVNNYSECKALIESNQT->A<RWKNVKVNFDNVGLGYLSLLQVATFKGWMD1426
SCN3ATTGNM---FDISDVNNLSDCQALGK--Q-->A<RWKNVKVNFDNVGAGYLALLQVATFKGWMD1421
SCN4ATTSER---FDISEVNNKSECESLMHTGQ-->V<RWLNVKVNYDNVGLGYLSLLQVATFKGWMD1248
SCN5ATEGDL-P-LNYTIVNNKSQCESLNLTGE-->L<YWTKVKVNFDNVGAGYLALLQVATFKGWMD1423
SCN7ATSGER---FPSSEVMNKSRCESLLFNES-->M<LWENAKMNFDNVGNGFLSLLQVATFNGWIT1146
SCN8ATSEIR---FEIEDVNNKTECEKLMEGNNTE>I<RWKNVKINFDNVGAGYLALLQVATFKGWMD1417
SCN9ATDGSR---FPASQVPNRSECFALMNVSQN->V<RWKNLKVNFDNVGLGYLSLLQVATFKGWTI1399
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1089 for CACNA1C.