Paralogue Annotation for CACNA1C residue 1100

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1100
Reference Amino Acid: N - Asparagine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1100

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN1417SDravet syndrome C ?High9 21248271

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.



CACNA1CYITYKDGEVDHP-IIQ--PRSWENSKFDFD>N<VLAAMMALFTVSTFEGWPELLYRSIDSHTE1130
CACNA1AYLLYEKNEVK----AR--DREWKKYEFHYD>N<VLWALLTLFTVSTGEGWPQVLKHSVDATFE1475
CACNA1BYLDYEKEEVE----AQ--PRQWKKYDFHYD>N<VLWALLTLFTVSTGEGWPMVLKHSVDATYE1381
CACNA1DFILYKDGDVDSP-VVR--ERIWQNSDFNFD>N<VLSAMMALFTVSTFEGWPALLYKAIDSNGE1136
CACNA1EYVDHEKNKME----VK--GREWKRHEFHYD>N<IIWALLTLFTVSTGEGWPQVLQHSVDVTEE1387
CACNA1FFLVYPDGDVSRP-LVR--ERLWVNSDFNFD>N<VLSAMMALFTVSTFEGWPALLYKAIDAYAE1101
CACNA1GRNITNKSDCA----EA--SYRWVRHKYNFD>N<LGQALMSLFVLASKDGWVDIMYDGLDAVGV1501
CACNA1HRNISTKAQCR----AA--HYRWVRRKYNFD>N<LGQALMSLFVLSSKDGWVNIMYDGLDAVGV1519
CACNA1IRNITNRSDCM----AA--NYRWVHHKYNFD>N<LGQALMSLFVLASKDGWVNIMYNGLDAVAV1395
CACNA1SYYVYKDGDPMQI-ELR--HREWVHSDFHFD>N<VLSAMMSLFTVSTFEGWPQLLYKAIDSNAE1029
SCN10ASIVNNKSDCKIQNSTGS--FFWVNVKVNFD>N<VAMGYLALLQVATFKGWMDIMYAAVDSREV1382
SCN11ATIITNKSQCESGN------FSWINQKVNFD>N<VGNAYLALLQVATFKGWMDIIYAAVDSTEK1272
SCN1AEDVNNHTDCLKLIERNET-ARWKNVKVNFD>N<VGFGYLSLLQVATFKGWMDIMYAAVDSRNV1447
SCN2ASVVNNYSECKALIESNQT-ARWKNVKVNFD>N<VGLGYLSLLQVATFKGWMDIMYAAVDSRNV1437
SCN3ASDVNNLSDCQALGK--Q--ARWKNVKVNFD>N<VGAGYLALLQVATFKGWMDIMYAAVDSRDV1432
SCN4ASEVNNKSECESLMHTGQ--VRWLNVKVNYD>N<VGLGYLSLLQVATFKGWMDIMYAAVDSREK1259
SCN5ATIVNNKSQCESLNLTGE--LYWTKVKVNFD>N<VGAGYLALLQVATFKGWMDIMYAAVDSRGY1434
SCN7ASEVMNKSRCESLLFNES--MLWENAKMNFD>N<VGNGFLSLLQVATFNGWITIMNSAIDSVAV1157
SCN8AEDVNNKTECEKLMEGNNTEIRWKNVKINFD>N<VGAGYLALLQVATFKGWMDIMYAAVDSRKP1428
SCN9ASQVPNRSECFALMNVSQN-VRWKNLKVNFD>N<VGLGYLSLLQVATFKGWTIIMYAAVDSVNV1410
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1100 for CACNA1C.