Paralogue Annotation for CACNA1C residue 1105

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1105
Reference Amino Acid: M - Methionine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1105

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AY1409CBrugada syndromeMedium9 20129283, 24136861
SCN1AY1422CMyoclonic epilepsy of infancyMedium9 17054684

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.



CACNA1CDGEVDHP-IIQ--PRSWENSKFDFDNVLAA>M<MALFTVSTFEGWPELLYRSIDSHTEDKGPI1135
CACNA1AKNEVK----AR--DREWKKYEFHYDNVLWA>L<LTLFTVSTGEGWPQVLKHSVDATFENQGPS1480
CACNA1BKEEVE----AQ--PRQWKKYDFHYDNVLWA>L<LTLFTVSTGEGWPMVLKHSVDATYEEQGPS1386
CACNA1DDGDVDSP-VVR--ERIWQNSDFNFDNVLSA>M<MALFTVSTFEGWPALLYKAIDSNGENIGPI1141
CACNA1EKNKME----VK--GREWKRHEFHYDNIIWA>L<LTLFTVSTGEGWPQVLQHSVDVTEEDRGPS1392
CACNA1FDGDVSRP-LVR--ERLWVNSDFNFDNVLSA>M<MALFTVSTFEGWPALLYKAIDAYAEDHGPI1106
CACNA1GKSDCA----EA--SYRWVRHKYNFDNLGQA>L<MSLFVLASKDGWVDIMYDGLDAVGVDQQPI1506
CACNA1HKAQCR----AA--HYRWVRRKYNFDNLGQA>L<MSLFVLSSKDGWVNIMYDGLDAVGVDQQPV1524
CACNA1IRSDCM----AA--NYRWVHHKYNFDNLGQA>L<MSLFVLASKDGWVNIMYNGLDAVAVDQQPV1400
CACNA1SDGDPMQI-ELR--HREWVHSDFHFDNVLSA>M<MSLFTVSTFEGWPQLLYKAIDSNAEDVGPI1034
SCN10AKSDCKIQNSTGS--FFWVNVKVNFDNVAMG>Y<LALLQVATFKGWMDIMYAAVDSREVNMQPK1387
SCN11AKSQCESGN------FSWINQKVNFDNVGNA>Y<LALLQVATFKGWMDIIYAAVDSTEKEQQPE1277
SCN1AHTDCLKLIERNET-ARWKNVKVNFDNVGFG>Y<LSLLQVATFKGWMDIMYAAVDSRNVELQPK1452
SCN2AYSECKALIESNQT-ARWKNVKVNFDNVGLG>Y<LSLLQVATFKGWMDIMYAAVDSRNVELQPK1442
SCN3ALSDCQALGK--Q--ARWKNVKVNFDNVGAG>Y<LALLQVATFKGWMDIMYAAVDSRDVKLQPV1437
SCN4AKSECESLMHTGQ--VRWLNVKVNYDNVGLG>Y<LSLLQVATFKGWMDIMYAAVDSREKEEQPQ1264
SCN5AKSQCESLNLTGE--LYWTKVKVNFDNVGAG>Y<LALLQVATFKGWMDIMYAAVDSRGYEEQPQ1439
SCN7AKSRCESLLFNES--MLWENAKMNFDNVGNG>F<LSLLQVATFNGWITIMNSAIDSVAVNIQPH1162
SCN8AKTECEKLMEGNNTEIRWKNVKINFDNVGAG>Y<LALLQVATFKGWMDIMYAAVDSRKPDEQPK1433
SCN9ARSECFALMNVSQN-VRWKNLKVNFDNVGLG>Y<LSLLQVATFKGWTIIMYAAVDSVNVDKQPK1415
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1105 for CACNA1C.