Paralogue Annotation for CACNA1C residue 1106

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1106
Reference Amino Acid: M - Methionine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1106

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1423FDravet syndrome C ?Medium9 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.



CACNA1CGEVDHP-IIQ--PRSWENSKFDFDNVLAAM>M<ALFTVSTFEGWPELLYRSIDSHTEDKGPIY1136
CACNA1ANEVK----AR--DREWKKYEFHYDNVLWAL>L<TLFTVSTGEGWPQVLKHSVDATFENQGPSP1481
CACNA1BEEVE----AQ--PRQWKKYDFHYDNVLWAL>L<TLFTVSTGEGWPMVLKHSVDATYEEQGPSP1387
CACNA1DGDVDSP-VVR--ERIWQNSDFNFDNVLSAM>M<ALFTVSTFEGWPALLYKAIDSNGENIGPIY1142
CACNA1ENKME----VK--GREWKRHEFHYDNIIWAL>L<TLFTVSTGEGWPQVLQHSVDVTEEDRGPSR1393
CACNA1FGDVSRP-LVR--ERLWVNSDFNFDNVLSAM>M<ALFTVSTFEGWPALLYKAIDAYAEDHGPIY1107
CACNA1GSDCA----EA--SYRWVRHKYNFDNLGQAL>M<SLFVLASKDGWVDIMYDGLDAVGVDQQPIM1507
CACNA1HAQCR----AA--HYRWVRRKYNFDNLGQAL>M<SLFVLSSKDGWVNIMYDGLDAVGVDQQPVQ1525
CACNA1ISDCM----AA--NYRWVHHKYNFDNLGQAL>M<SLFVLASKDGWVNIMYNGLDAVAVDQQPVT1401
CACNA1SGDPMQI-ELR--HREWVHSDFHFDNVLSAM>M<SLFTVSTFEGWPQLLYKAIDSNAEDVGPIY1035
SCN10ASDCKIQNSTGS--FFWVNVKVNFDNVAMGY>L<ALLQVATFKGWMDIMYAAVDSREVNMQPKW1388
SCN11ASQCESGN------FSWINQKVNFDNVGNAY>L<ALLQVATFKGWMDIIYAAVDSTEKEQQPEF1278
SCN1ATDCLKLIERNET-ARWKNVKVNFDNVGFGY>L<SLLQVATFKGWMDIMYAAVDSRNVELQPKY1453
SCN2ASECKALIESNQT-ARWKNVKVNFDNVGLGY>L<SLLQVATFKGWMDIMYAAVDSRNVELQPKY1443
SCN3ASDCQALGK--Q--ARWKNVKVNFDNVGAGY>L<ALLQVATFKGWMDIMYAAVDSRDVKLQPVY1438
SCN4ASECESLMHTGQ--VRWLNVKVNYDNVGLGY>L<SLLQVATFKGWMDIMYAAVDSREKEEQPQY1265
SCN5ASQCESLNLTGE--LYWTKVKVNFDNVGAGY>L<ALLQVATFKGWMDIMYAAVDSRGYEEQPQW1440
SCN7ASRCESLLFNES--MLWENAKMNFDNVGNGF>L<SLLQVATFNGWITIMNSAIDSVAVNIQPHF1163
SCN8ATECEKLMEGNNTEIRWKNVKINFDNVGAGY>L<ALLQVATFKGWMDIMYAAVDSRKPDEQPKY1434
SCN9ASECFALMNVSQN-VRWKNLKVNFDNVGLGY>L<SLLQVATFKGWTIIMYAAVDSVNVDKQPKY1416
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1106 for CACNA1C.