Paralogue Annotation for CACNA1C residue 1112

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1112
Reference Amino Acid: S - Serine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1112

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1429DIntractable epilepsyMedium9 23195492
SCN1AA1429SDevelopmental disorder and intellectual disabilityMedium9 23032131
SCN5AA1416EBrugada syndromeMedium9 25650408

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.



CACNA1C-IIQ--PRSWENSKFDFDNVLAAMMALFTV>S<TFEGWPELLYRSIDSHTEDKGPIYNYRVEI1142
CACNA1A--AR--DREWKKYEFHYDNVLWALLTLFTV>S<TGEGWPQVLKHSVDATFENQGPSPGYRMEM1487
CACNA1B--AQ--PRQWKKYDFHYDNVLWALLTLFTV>S<TGEGWPMVLKHSVDATYEEQGPSPGYRMEL1393
CACNA1D-VVR--ERIWQNSDFNFDNVLSAMMALFTV>S<TFEGWPALLYKAIDSNGENIGPIYNHRVEI1148
CACNA1E--VK--GREWKRHEFHYDNIIWALLTLFTV>S<TGEGWPQVLQHSVDVTEEDRGPSRSNRMEM1399
CACNA1F-LVR--ERLWVNSDFNFDNVLSAMMALFTV>S<TFEGWPALLYKAIDAYAEDHGPIYNYRVEI1113
CACNA1G--EA--SYRWVRHKYNFDNLGQALMSLFVL>A<SKDGWVDIMYDGLDAVGVDQQPIMNHNPWM1513
CACNA1H--AA--HYRWVRRKYNFDNLGQALMSLFVL>S<SKDGWVNIMYDGLDAVGVDQQPVQNHNPWM1531
CACNA1I--AA--NYRWVHHKYNFDNLGQALMSLFVL>A<SKDGWVNIMYNGLDAVAVDQQPVTNHNPWM1407
CACNA1S-ELR--HREWVHSDFHFDNVLSAMMSLFTV>S<TFEGWPQLLYKAIDSNAEDVGPIYNNRVEM1041
SCN10ANSTGS--FFWVNVKVNFDNVAMGYLALLQV>A<TFKGWMDIMYAAVDSREVNMQPKWEDNVYM1394
SCN11AN------FSWINQKVNFDNVGNAYLALLQV>A<TFKGWMDIIYAAVDSTEKEQQPEFESNSLG1284
SCN1AIERNET-ARWKNVKVNFDNVGFGYLSLLQV>A<TFKGWMDIMYAAVDSRNVELQPKYEESLYM1459
SCN2AIESNQT-ARWKNVKVNFDNVGLGYLSLLQV>A<TFKGWMDIMYAAVDSRNVELQPKYEDNLYM1449
SCN3AGK--Q--ARWKNVKVNFDNVGAGYLALLQV>A<TFKGWMDIMYAAVDSRDVKLQPVYEENLYM1444
SCN4AMHTGQ--VRWLNVKVNYDNVGLGYLSLLQV>A<TFKGWMDIMYAAVDSREKEEQPQYEVNLYM1271
SCN5ANLTGE--LYWTKVKVNFDNVGAGYLALLQV>A<TFKGWMDIMYAAVDSRGYEEQPQWEYNLYM1446
SCN7ALFNES--MLWENAKMNFDNVGNGFLSLLQV>A<TFNGWITIMNSAIDSVAVNIQPHFEVNIYM1169
SCN8AMEGNNTEIRWKNVKINFDNVGAGYLALLQV>A<TFKGWMDIMYAAVDSRKPDEQPKYEDNIYM1440
SCN9AMNVSQN-VRWKNLKVNFDNVGLGYLSLLQV>A<TFKGWTIIMYAAVDSVNVDKQPKYEYSLYM1422
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1112 for CACNA1C.