Paralogue Annotation for CACNA1C residue 1108

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1108
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1108

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FL1079PNight blindness, congenital stationary, incompleteHigh9 12111638, 15634789
SCN5AL1412FBrugada syndromeHigh9 20129283, 24136861

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.



CACNA1CVDHP-IIQ--PRSWENSKFDFDNVLAAMMA>L<FTVSTFEGWPELLYRSIDSHTEDKGPIYNY1138
CACNA1AVK----AR--DREWKKYEFHYDNVLWALLT>L<FTVSTGEGWPQVLKHSVDATFENQGPSPGY1483
CACNA1BVE----AQ--PRQWKKYDFHYDNVLWALLT>L<FTVSTGEGWPMVLKHSVDATYEEQGPSPGY1389
CACNA1DVDSP-VVR--ERIWQNSDFNFDNVLSAMMA>L<FTVSTFEGWPALLYKAIDSNGENIGPIYNH1144
CACNA1EME----VK--GREWKRHEFHYDNIIWALLT>L<FTVSTGEGWPQVLQHSVDVTEEDRGPSRSN1395
CACNA1FVSRP-LVR--ERLWVNSDFNFDNVLSAMMA>L<FTVSTFEGWPALLYKAIDAYAEDHGPIYNY1109
CACNA1GCA----EA--SYRWVRHKYNFDNLGQALMS>L<FVLASKDGWVDIMYDGLDAVGVDQQPIMNH1509
CACNA1HCR----AA--HYRWVRRKYNFDNLGQALMS>L<FVLSSKDGWVNIMYDGLDAVGVDQQPVQNH1527
CACNA1ICM----AA--NYRWVHHKYNFDNLGQALMS>L<FVLASKDGWVNIMYNGLDAVAVDQQPVTNH1403
CACNA1SPMQI-ELR--HREWVHSDFHFDNVLSAMMS>L<FTVSTFEGWPQLLYKAIDSNAEDVGPIYNN1037
SCN10ACKIQNSTGS--FFWVNVKVNFDNVAMGYLA>L<LQVATFKGWMDIMYAAVDSREVNMQPKWED1390
SCN11ACESGN------FSWINQKVNFDNVGNAYLA>L<LQVATFKGWMDIIYAAVDSTEKEQQPEFES1280
SCN1ACLKLIERNET-ARWKNVKVNFDNVGFGYLS>L<LQVATFKGWMDIMYAAVDSRNVELQPKYEE1455
SCN2ACKALIESNQT-ARWKNVKVNFDNVGLGYLS>L<LQVATFKGWMDIMYAAVDSRNVELQPKYED1445
SCN3ACQALGK--Q--ARWKNVKVNFDNVGAGYLA>L<LQVATFKGWMDIMYAAVDSRDVKLQPVYEE1440
SCN4ACESLMHTGQ--VRWLNVKVNYDNVGLGYLS>L<LQVATFKGWMDIMYAAVDSREKEEQPQYEV1267
SCN5ACESLNLTGE--LYWTKVKVNFDNVGAGYLA>L<LQVATFKGWMDIMYAAVDSRGYEEQPQWEY1442
SCN7ACESLLFNES--MLWENAKMNFDNVGNGFLS>L<LQVATFNGWITIMNSAIDSVAVNIQPHFEV1165
SCN8ACEKLMEGNNTEIRWKNVKINFDNVGAGYLA>L<LQVATFKGWMDIMYAAVDSRKPDEQPKYED1436
SCN9ACFALMNVSQN-VRWKNLKVNFDNVGLGYLS>L<LQVATFKGWTIIMYAAVDSVNVDKQPKYEY1418
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1108 for CACNA1C.