Paralogue Annotation for CACNA1C residue 1110

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1110
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1110

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AQ1427PMyoclonic epilepsy of infancyMedium9 23195492
SCN1AQ1427XMyoclonic epilepsy of infancyMedium9 17347258, 25525159
CACNA1ST1009KMalignant hyperthermiaHigh9 24013571, 25658027

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.



CACNA1CHP-IIQ--PRSWENSKFDFDNVLAAMMALF>T<VSTFEGWPELLYRSIDSHTEDKGPIYNYRV1140
CACNA1A----AR--DREWKKYEFHYDNVLWALLTLF>T<VSTGEGWPQVLKHSVDATFENQGPSPGYRM1485
CACNA1B----AQ--PRQWKKYDFHYDNVLWALLTLF>T<VSTGEGWPMVLKHSVDATYEEQGPSPGYRM1391
CACNA1DSP-VVR--ERIWQNSDFNFDNVLSAMMALF>T<VSTFEGWPALLYKAIDSNGENIGPIYNHRV1146
CACNA1E----VK--GREWKRHEFHYDNIIWALLTLF>T<VSTGEGWPQVLQHSVDVTEEDRGPSRSNRM1397
CACNA1FRP-LVR--ERLWVNSDFNFDNVLSAMMALF>T<VSTFEGWPALLYKAIDAYAEDHGPIYNYRV1111
CACNA1G----EA--SYRWVRHKYNFDNLGQALMSLF>V<LASKDGWVDIMYDGLDAVGVDQQPIMNHNP1511
CACNA1H----AA--HYRWVRRKYNFDNLGQALMSLF>V<LSSKDGWVNIMYDGLDAVGVDQQPVQNHNP1529
CACNA1I----AA--NYRWVHHKYNFDNLGQALMSLF>V<LASKDGWVNIMYNGLDAVAVDQQPVTNHNP1405
CACNA1SQI-ELR--HREWVHSDFHFDNVLSAMMSLF>T<VSTFEGWPQLLYKAIDSNAEDVGPIYNNRV1039
SCN10AIQNSTGS--FFWVNVKVNFDNVAMGYLALL>Q<VATFKGWMDIMYAAVDSREVNMQPKWEDNV1392
SCN11ASGN------FSWINQKVNFDNVGNAYLALL>Q<VATFKGWMDIIYAAVDSTEKEQQPEFESNS1282
SCN1AKLIERNET-ARWKNVKVNFDNVGFGYLSLL>Q<VATFKGWMDIMYAAVDSRNVELQPKYEESL1457
SCN2AALIESNQT-ARWKNVKVNFDNVGLGYLSLL>Q<VATFKGWMDIMYAAVDSRNVELQPKYEDNL1447
SCN3AALGK--Q--ARWKNVKVNFDNVGAGYLALL>Q<VATFKGWMDIMYAAVDSRDVKLQPVYEENL1442
SCN4ASLMHTGQ--VRWLNVKVNYDNVGLGYLSLL>Q<VATFKGWMDIMYAAVDSREKEEQPQYEVNL1269
SCN5ASLNLTGE--LYWTKVKVNFDNVGAGYLALL>Q<VATFKGWMDIMYAAVDSRGYEEQPQWEYNL1444
SCN7ASLLFNES--MLWENAKMNFDNVGNGFLSLL>Q<VATFNGWITIMNSAIDSVAVNIQPHFEVNI1167
SCN8AKLMEGNNTEIRWKNVKINFDNVGAGYLALL>Q<VATFKGWMDIMYAAVDSRKPDEQPKYEDNI1438
SCN9AALMNVSQN-VRWKNLKVNFDNVGLGYLSLL>Q<VATFKGWTIIMYAAVDSVNVDKQPKYEYSL1420
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T1110Ac.3328A>G Putative BenignSIFT:
Polyphen: