Paralogue Annotation for CACNA1C residue 1104

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1104
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1104

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AG1408RBrugada syndromeMedium9 11748104, 20539757

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.



CACNA1CKDGEVDHP-IIQ--PRSWENSKFDFDNVLA>A<MMALFTVSTFEGWPELLYRSIDSHTEDKGP1134
CACNA1AEKNEVK----AR--DREWKKYEFHYDNVLW>A<LLTLFTVSTGEGWPQVLKHSVDATFENQGP1479
CACNA1BEKEEVE----AQ--PRQWKKYDFHYDNVLW>A<LLTLFTVSTGEGWPMVLKHSVDATYEEQGP1385
CACNA1DKDGDVDSP-VVR--ERIWQNSDFNFDNVLS>A<MMALFTVSTFEGWPALLYKAIDSNGENIGP1140
CACNA1EEKNKME----VK--GREWKRHEFHYDNIIW>A<LLTLFTVSTGEGWPQVLQHSVDVTEEDRGP1391
CACNA1FPDGDVSRP-LVR--ERLWVNSDFNFDNVLS>A<MMALFTVSTFEGWPALLYKAIDAYAEDHGP1105
CACNA1GNKSDCA----EA--SYRWVRHKYNFDNLGQ>A<LMSLFVLASKDGWVDIMYDGLDAVGVDQQP1505
CACNA1HTKAQCR----AA--HYRWVRRKYNFDNLGQ>A<LMSLFVLSSKDGWVNIMYDGLDAVGVDQQP1523
CACNA1INRSDCM----AA--NYRWVHHKYNFDNLGQ>A<LMSLFVLASKDGWVNIMYNGLDAVAVDQQP1399
CACNA1SKDGDPMQI-ELR--HREWVHSDFHFDNVLS>A<MMSLFTVSTFEGWPQLLYKAIDSNAEDVGP1033
SCN10ANKSDCKIQNSTGS--FFWVNVKVNFDNVAM>G<YLALLQVATFKGWMDIMYAAVDSREVNMQP1386
SCN11ANKSQCESGN------FSWINQKVNFDNVGN>A<YLALLQVATFKGWMDIIYAAVDSTEKEQQP1276
SCN1ANHTDCLKLIERNET-ARWKNVKVNFDNVGF>G<YLSLLQVATFKGWMDIMYAAVDSRNVELQP1451
SCN2ANYSECKALIESNQT-ARWKNVKVNFDNVGL>G<YLSLLQVATFKGWMDIMYAAVDSRNVELQP1441
SCN3ANLSDCQALGK--Q--ARWKNVKVNFDNVGA>G<YLALLQVATFKGWMDIMYAAVDSRDVKLQP1436
SCN4ANKSECESLMHTGQ--VRWLNVKVNYDNVGL>G<YLSLLQVATFKGWMDIMYAAVDSREKEEQP1263
SCN5ANKSQCESLNLTGE--LYWTKVKVNFDNVGA>G<YLALLQVATFKGWMDIMYAAVDSRGYEEQP1438
SCN7ANKSRCESLLFNES--MLWENAKMNFDNVGN>G<FLSLLQVATFNGWITIMNSAIDSVAVNIQP1161
SCN8ANKTECEKLMEGNNTEIRWKNVKINFDNVGA>G<YLALLQVATFKGWMDIMYAAVDSRKPDEQP1432
SCN9ANRSECFALMNVSQN-VRWKNLKVNFDNVGL>G<YLSLLQVATFKGWTIIMYAAVDSVNVDKQP1414
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1104 for CACNA1C.