Paralogue Annotation for CACNA1C residue 1101

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1101
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1101

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1405MBrugada syndromeHigh9 20129283
SCN5AV1405LBrugada syndromeHigh9 12106943
SCN1AV1418GMyoclonic epilepsy of infancyHigh9 23195492

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.



CACNA1CITYKDGEVDHP-IIQ--PRSWENSKFDFDN>V<LAAMMALFTVSTFEGWPELLYRSIDSHTED1131
CACNA1ALLYEKNEVK----AR--DREWKKYEFHYDN>V<LWALLTLFTVSTGEGWPQVLKHSVDATFEN1476
CACNA1BLDYEKEEVE----AQ--PRQWKKYDFHYDN>V<LWALLTLFTVSTGEGWPMVLKHSVDATYEE1382
CACNA1DILYKDGDVDSP-VVR--ERIWQNSDFNFDN>V<LSAMMALFTVSTFEGWPALLYKAIDSNGEN1137
CACNA1EVDHEKNKME----VK--GREWKRHEFHYDN>I<IWALLTLFTVSTGEGWPQVLQHSVDVTEED1388
CACNA1FLVYPDGDVSRP-LVR--ERLWVNSDFNFDN>V<LSAMMALFTVSTFEGWPALLYKAIDAYAED1102
CACNA1GNITNKSDCA----EA--SYRWVRHKYNFDN>L<GQALMSLFVLASKDGWVDIMYDGLDAVGVD1502
CACNA1HNISTKAQCR----AA--HYRWVRRKYNFDN>L<GQALMSLFVLSSKDGWVNIMYDGLDAVGVD1520
CACNA1INITNRSDCM----AA--NYRWVHHKYNFDN>L<GQALMSLFVLASKDGWVNIMYNGLDAVAVD1396
CACNA1SYVYKDGDPMQI-ELR--HREWVHSDFHFDN>V<LSAMMSLFTVSTFEGWPQLLYKAIDSNAED1030
SCN10AIVNNKSDCKIQNSTGS--FFWVNVKVNFDN>V<AMGYLALLQVATFKGWMDIMYAAVDSREVN1383
SCN11AIITNKSQCESGN------FSWINQKVNFDN>V<GNAYLALLQVATFKGWMDIIYAAVDSTEKE1273
SCN1ADVNNHTDCLKLIERNET-ARWKNVKVNFDN>V<GFGYLSLLQVATFKGWMDIMYAAVDSRNVE1448
SCN2AVVNNYSECKALIESNQT-ARWKNVKVNFDN>V<GLGYLSLLQVATFKGWMDIMYAAVDSRNVE1438
SCN3ADVNNLSDCQALGK--Q--ARWKNVKVNFDN>V<GAGYLALLQVATFKGWMDIMYAAVDSRDVK1433
SCN4AEVNNKSECESLMHTGQ--VRWLNVKVNYDN>V<GLGYLSLLQVATFKGWMDIMYAAVDSREKE1260
SCN5AIVNNKSQCESLNLTGE--LYWTKVKVNFDN>V<GAGYLALLQVATFKGWMDIMYAAVDSRGYE1435
SCN7AEVMNKSRCESLLFNES--MLWENAKMNFDN>V<GNGFLSLLQVATFNGWITIMNSAIDSVAVN1158
SCN8ADVNNKTECEKLMEGNNTEIRWKNVKINFDN>V<GAGYLALLQVATFKGWMDIMYAAVDSRKPD1429
SCN9AQVPNRSECFALMNVSQN-VRWKNLKVNFDN>V<GLGYLSLLQVATFKGWTIIMYAAVDSVNVD1411
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1101 for CACNA1C.