Paralogue Annotation for CACNA1C residue 1116

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1116
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1116

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AG1420RBrugada syndromeHigh9 20129283, 24136861
SCN5AG1420VBrugada syndrome ?High9 21126620
SCN1AG1433RDravet syndromeHigh9 20729507
SCN1AG1433EMyoclonic epilepsy of infancyHigh9 18554359, 24168886
SCN1AG1433VDravet 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.



CACNA1C--PRSWENSKFDFDNVLAAMMALFTVSTFE>G<WPELLYRSIDSHTEDKGPIYNYRVEISIFF1146
CACNA1A--DREWKKYEFHYDNVLWALLTLFTVSTGE>G<WPQVLKHSVDATFENQGPSPGYRMEMSIFY1491
CACNA1B--PRQWKKYDFHYDNVLWALLTLFTVSTGE>G<WPMVLKHSVDATYEEQGPSPGYRMELSIFY1397
CACNA1D--ERIWQNSDFNFDNVLSAMMALFTVSTFE>G<WPALLYKAIDSNGENIGPIYNHRVEISIFF1152
CACNA1E--GREWKRHEFHYDNIIWALLTLFTVSTGE>G<WPQVLQHSVDVTEEDRGPSRSNRMEMSIFY1403
CACNA1F--ERLWVNSDFNFDNVLSAMMALFTVSTFE>G<WPALLYKAIDAYAEDHGPIYNYRVEISVFF1117
CACNA1G--SYRWVRHKYNFDNLGQALMSLFVLASKD>G<WVDIMYDGLDAVGVDQQPIMNHNPWMLLYF1517
CACNA1H--HYRWVRRKYNFDNLGQALMSLFVLSSKD>G<WVNIMYDGLDAVGVDQQPVQNHNPWMLLYF1535
CACNA1I--NYRWVHHKYNFDNLGQALMSLFVLASKD>G<WVNIMYNGLDAVAVDQQPVTNHNPWMLLYF1411
CACNA1S--HREWVHSDFHFDNVLSAMMSLFTVSTFE>G<WPQLLYKAIDSNAEDVGPIYNNRVEMAIFF1045
SCN10AS--FFWVNVKVNFDNVAMGYLALLQVATFK>G<WMDIMYAAVDSREVNMQPKWEDNVYMYLYF1398
SCN11A---FSWINQKVNFDNVGNAYLALLQVATFK>G<WMDIIYAAVDSTEKEQQPEFESNSLGYIYF1288
SCN1AET-ARWKNVKVNFDNVGFGYLSLLQVATFK>G<WMDIMYAAVDSRNVELQPKYEESLYMYLYF1463
SCN2AQT-ARWKNVKVNFDNVGLGYLSLLQVATFK>G<WMDIMYAAVDSRNVELQPKYEDNLYMYLYF1453
SCN3AQ--ARWKNVKVNFDNVGAGYLALLQVATFK>G<WMDIMYAAVDSRDVKLQPVYEENLYMYLYF1448
SCN4AQ--VRWLNVKVNYDNVGLGYLSLLQVATFK>G<WMDIMYAAVDSREKEEQPQYEVNLYMYLYF1275
SCN5AE--LYWTKVKVNFDNVGAGYLALLQVATFK>G<WMDIMYAAVDSRGYEEQPQWEYNLYMYIYF1450
SCN7AS--MLWENAKMNFDNVGNGFLSLLQVATFN>G<WITIMNSAIDSVAVNIQPHFEVNIYMYCYF1173
SCN8ANTEIRWKNVKINFDNVGAGYLALLQVATFK>G<WMDIMYAAVDSRKPDEQPKYEDNIYMYIYF1444
SCN9AQN-VRWKNLKVNFDNVGLGYLSLLQVATFK>G<WTIIMYAAVDSVNVDKQPKYEYSLYMYIYF1426
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Gly1116Alac.3347G>C UnknownSIFT:
Polyphen: